MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000265849
Querying Taster for transcript #2: ENST00000699930
Querying Taster for transcript #3: ENST00000699811
Querying Taster for transcript #4: ENST00000699752
Querying Taster for transcript #5: ENST00000699818
Querying Taster for transcript #6: ENST00000699754
Querying Taster for transcript #7: ENST00000699760
Querying Taster for transcript #8: ENST00000699821
Querying Taster for transcript #9: ENST00000699766
Querying Taster for transcript #10: ENST00000699768
Querying Taster for transcript #11: ENST00000699839
Querying Taster for transcript #12: ENST00000699823
Querying Taster for transcript #13: ENST00000699840
Querying Taster for transcript #14: ENST00000699827
Querying Taster for transcript #15: ENST00000642292
Querying Taster for transcript #16: ENST00000642456
Querying Taster for transcript #17: ENST00000382321
Querying Taster for transcript #18: ENST00000699825
Querying Taster for transcript #19: ENST00000699837
Querying Taster for transcript #20: ENST00000699761
Querying Taster for transcript #21: ENST00000699762
MT speed 6.93 s - this script 9.546417 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000265849(MANE Select)	PMS2	Deleterious	88\|12	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000642292	PMS2	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000642456	PMS2	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699930	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699811	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699752	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699818	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699754	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699760	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699821	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699766	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699768	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699839	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699823	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699840	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699827	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699825	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699837	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699761	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000699762	PMS2	Deleterious	100\|0	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000382321	PMS2	Deleterious	159\|41	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

7:5992000C>A_1_ENST00000265849

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 88|12 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

LOEUF: 0.90, LOF (oe): 0.68, misssense (oe): 0.96, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000265849.12

Genbank transcript ID

NM_000535 (exact from MANE), NM_001406872 (by similarity), NM_001406868 (by similarity)

UniProt / AlphaMissense peptide

PMS2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.961G>T
g.17131G>T

AA changes

AAE:	V321F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		321	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	321	Y	H	M	Y	N	R	H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	all identical	1848	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V
Mmulatta	all identical	397	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V
Fcatus	all identical	352	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V
Mmusculus	all identical	321	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	V	S	V	D	S	E	C	V
Ggallus	all conserved	320	Y	H	L	Y	N	K	H	Q	Y	P	F	I	V	L	N	I	C	V	D	S	E	C	V
Trubripes	all identical	319			M	Y	N	R	H	Q	Y	P	F	V	A	L	N	I	S	V	A	S	E	C	V
Drerio	no homologue
Dmelanogaster	all conserved	353	Y	H	R	Y	N	V	Q	Q	Q	P	F	I	Y	L	N	I	I	T	A	R	S	D	V
Celegans	all conserved	320	Y	K	Q	F	N	K	K	Q	Y	P	I	I	V	L	F	I	D	V	P	P	E	K	I
Xtropicalis	all identical	320	Y	H	L	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	C	V	S	S	E	C	V

Protein features

Start (aa)	End (aa)	Feature	Details
1	862	CHAIN		lost
321	326	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF VVLNISVDSE CVDINVTPDK RQILLQEEKL LLAVLKTSLI
GMFDSDVNKL NVSQQPLLDV EGNLIKMHAA DLEKPMVEKQ DQSPSLRTGE EKKDVSISRL
REAFSLRHTT ENKPHSPKTP EPRRSPLGQK RGMLSSSTSG AISDKGVLRP QKEAVSSSHG
PSDPTDRAEV EKDSGHGSTS VDSEGFSIPD TGSHCSSEYA ASSPGDRGSQ EHVDSQEKAP
KTDDSFSDVD CHSNQEDTGC KFRVLPQPTN LATPNTKRFK KEEILSSSDI CQKLVNTQDM
SASQVDVAVK INKKVVPLDF SMSSLAKRIK QLHHEAQQSE GEQNYRKFRA KICPGENQAA
EDELRKEISK TMFAEMEIIG QFNLGFIITK LNEDIFIVDQ HATDEKYNFE MLQQHTVLQG
QRLIAPQTLN LTAVNEAVLI ENLEIFRKNG FDFVIDENAP VTERAKLISL PTSKNWTFGP
QDVDELIFML SDSPGVMCRP SRVKQMFASR ACRKSVMIGT ALNTSEMKKL ITHMGEMDHP
WNCPHGRPTM RHIANLGVIS QN*

Mutated AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF FVLNISVDSE CVDINVTPDK RQILLQEEKL LLAVLKTSLI
GMFDSDVNKL NVSQQPLLDV EGNLIKMHAA DLEKPMVEKQ DQSPSLRTGE EKKDVSISRL
REAFSLRHTT ENKPHSPKTP EPRRSPLGQK RGMLSSSTSG AISDKGVLRP QKEAVSSSHG
PSDPTDRAEV EKDSGHGSTS VDSEGFSIPD TGSHCSSEYA ASSPGDRGSQ EHVDSQEKAP
KTDDSFSDVD CHSNQEDTGC KFRVLPQPTN LATPNTKRFK KEEILSSSDI CQKLVNTQDM
SASQVDVAVK INKKVVPLDF SMSSLAKRIK QLHHEAQQSE GEQNYRKFRA KICPGENQAA
EDELRKEISK TMFAEMEIIG QFNLGFIITK LNEDIFIVDQ HATDEKYNFE MLQQHTVLQG
QRLIAPQTLN LTAVNEAVLI ENLEIFRKNG FDFVIDENAP VTERAKLISL PTSKNWTFGP
QDVDELIFML SDSPGVMCRP SRVKQMFASR ACRKSVMIGT ALNTSEMKKL ITHMGEMDHP
WNCPHGRPTM RHIANLGVIS QN*

Position of stopcodon in wt / mu CDS

2589 / 2589

Position (AA) of stopcodon in wt / mu AA sequence

863 / 863

Position of stopcodon in wt / mu cDNA

2619 / 2619

Position of start ATG in wt / mu cDNA

31 / 31

Last intron/exon boundary

2475

Theoretical NMD boundary in CDS

2394

Length of CDS

2589

Coding sequence (CDS) position

961

cDNA position

991

gDNA position

17131

Chromosomal position

5992000

Speed

0.36 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_15_ENST00000642292

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 95|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

LOEUF: 0.83, LOF (oe): 0.60, misssense (oe): 0.93, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000642292.1

Genbank transcript ID

NM_001322004 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.556G>T
g.17131G>T

AA changes

AAE:	V186F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		186	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	186							H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFFVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Position of stopcodon in wt / mu CDS

2184 / 2184

Position (AA) of stopcodon in wt / mu AA sequence

728 / 728

Position of stopcodon in wt / mu cDNA

2527 / 2527

Position of start ATG in wt / mu cDNA

344 / 344

Last intron/exon boundary

2383

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

556

cDNA position

899

gDNA position

17131

Chromosomal position

5992000

Speed

0.38 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_16_ENST00000642456

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 95|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

LOEUF: 0.83, LOF (oe): 0.60, misssense (oe): 0.93, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000642456.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.556G>T
g.17131G>T

AA changes

AAE:	V186F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		186	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	186							H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFFVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Position of stopcodon in wt / mu CDS

2184 / 2184

Position (AA) of stopcodon in wt / mu AA sequence

728 / 728

Position of stopcodon in wt / mu cDNA

2640 / 2640

Position of start ATG in wt / mu cDNA

457 / 457

Last intron/exon boundary

2496

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

556

cDNA position

1012

gDNA position

17131

Chromosomal position

5992000

Speed

0.39 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_2_ENST00000699930

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699930.2

Genbank transcript ID

NM_001406869 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.853G>T
g.17131G>T

AA changes

AAE:	V285F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		285	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	285	Y	H	M	Y	N	R	H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRL QSLIPFVQLP PSDSVCEEYG LSCSDALHNL FYISGFISQC
THGVGRSSTD RQFFFINRRP CDPAKVCRLV NEVYHMYNRH QYPFVVLNIS VDSECVDINV
TPDKRQILLQ EEKLLLAVLK TSLIGMFDSD VNKLNVSQQP LLDVEGNLIK MHAADLEKPM
VEKQDQSPSL RTGEEKKDVS ISRLREAFSL RHTTENKPHS PKTPEPRRSP LGQKRGMLSS
STSGAISDKG VLRPQKEAVS SSHGPSDPTD RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS
SEYAASSPGD RGSQEHVDSQ EKAPKTDDSF SDVDCHSNQE DTGCKFRVLP QPTNLATPNT
KRFKKEEILS SSDICQKLVN TQDMSASQVD VAVKINKKVV PLDFSMSSLA KRIKQLHHEA
QQSEGEQNYR KFRAKICPGE NQAAEDELRK EISKTMFAEM EIIGQFNLGF IITKLNEDIF
IVDQHATDEK YNFEMLQQHT VLQGQRLIAP QTLNLTAVNE AVLIENLEIF RKNGFDFVID
ENAPVTERAK LISLPTSKNW TFGPQDVDEL IFMLSDSPGV MCRPSRVKQM FASRACRKSV
MIGTALNTSE MKKLITHMGE MDHPWNCPHG RPTMRHIANL GVISQN*

Mutated AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRL QSLIPFVQLP PSDSVCEEYG LSCSDALHNL FYISGFISQC
THGVGRSSTD RQFFFINRRP CDPAKVCRLV NEVYHMYNRH QYPFFVLNIS VDSECVDINV
TPDKRQILLQ EEKLLLAVLK TSLIGMFDSD VNKLNVSQQP LLDVEGNLIK MHAADLEKPM
VEKQDQSPSL RTGEEKKDVS ISRLREAFSL RHTTENKPHS PKTPEPRRSP LGQKRGMLSS
STSGAISDKG VLRPQKEAVS SSHGPSDPTD RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS
SEYAASSPGD RGSQEHVDSQ EKAPKTDDSF SDVDCHSNQE DTGCKFRVLP QPTNLATPNT
KRFKKEEILS SSDICQKLVN TQDMSASQVD VAVKINKKVV PLDFSMSSLA KRIKQLHHEA
QQSEGEQNYR KFRAKICPGE NQAAEDELRK EISKTMFAEM EIIGQFNLGF IITKLNEDIF
IVDQHATDEK YNFEMLQQHT VLQGQRLIAP QTLNLTAVNE AVLIENLEIF RKNGFDFVID
ENAPVTERAK LISLPTSKNW TFGPQDVDEL IFMLSDSPGV MCRPSRVKQM FASRACRKSV
MIGTALNTSE MKKLITHMGE MDHPWNCPHG RPTMRHIANL GVISQN*

Position of stopcodon in wt / mu CDS

2481 / 2481

Position (AA) of stopcodon in wt / mu AA sequence

827 / 827

Position of stopcodon in wt / mu cDNA

2561 / 2561

Position of start ATG in wt / mu cDNA

81 / 81

Last intron/exon boundary

2417

Theoretical NMD boundary in CDS

2286

Length of CDS

2481

Coding sequence (CDS) position

853

cDNA position

933

gDNA position

17131

Chromosomal position

5992000

Speed

0.34 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_3_ENST00000699811

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699811.1

Genbank transcript ID

NM_001406881 (by similarity), NM_001406879 (by similarity), NM_001406905 (by similarity), NM_001406910 (by similarity), NM_001406908 (by similarity), NM_001322003 (by similarity), NM_001322015 (by similarity), NM_001406880 (by similarity), NM_001406890 (by similarity), NM_001406878 (by similarity), NM_001406891 (by similarity), NM_001406893 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.556G>T
g.17131G>T

AA changes

AAE:	V186F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		186	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	186							H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFFVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Position of stopcodon in wt / mu CDS

2184 / 2184

Position (AA) of stopcodon in wt / mu AA sequence

728 / 728

Position of stopcodon in wt / mu cDNA

2789 / 2789

Position of start ATG in wt / mu cDNA

606 / 606

Last intron/exon boundary

2645

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

556

cDNA position

1161

gDNA position

17131

Chromosomal position

5992000

Speed

0.35 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_4_ENST00000699752

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699752.1

Genbank transcript ID

NM_001406884 (by similarity), NM_001322006 (by similarity), NM_001406870 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.961G>T
g.17131G>T

AA changes

AAE:	V321F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		321	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	G	N	L	I
mutated	not conserved	321	Y	H	M	Y	N	R	H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	G	N	L
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF VVLNISVDSG NLIKMHAADL EKPMVEKQDQ SPSLRTGEEK
KDVSISRLRE AFSLRHTTEN KPHSPKTPEP RRSPLGQKRG MLSSSTSGAI SDKGVLRPQK
EAVSSSHGPS DPTDRAEVEK DSGHGSTSVD SEGFSIPDTG SHCSSEYAAS SPGDRGSQEH
VDSQEKAPKT DDSFSDVDCH SNQEDTGCKF RVLPQPTNLA TPNTKRFKKE EILSSSDICQ
KLVNTQDMSA SQVDVAVKIN KKVVPLDFSM SSLAKRIKQL HHEAQQSEGE QNYRKFRAKI
CPGENQAAED ELRKEISKTM FAEMEIIGQF NLGFIITKLN EDIFIVDQHA TDEKYNFEML
QQHTVLQGQR LIAPQTLNLT AVNEAVLIEN LEIFRKNGFD FVIDENAPVT ERAKLISLPT
SKNWTFGPQD VDELIFMLSD SPGVMCRPSR VKQMFASRAC RKSVMIGTAL NTSEMKKLIT
HMGEMDHPWN CPHGRPTMRH IANLGVISQN *

Mutated AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF FVLNISVDSG NLIKMHAADL EKPMVEKQDQ SPSLRTGEEK
KDVSISRLRE AFSLRHTTEN KPHSPKTPEP RRSPLGQKRG MLSSSTSGAI SDKGVLRPQK
EAVSSSHGPS DPTDRAEVEK DSGHGSTSVD SEGFSIPDTG SHCSSEYAAS SPGDRGSQEH
VDSQEKAPKT DDSFSDVDCH SNQEDTGCKF RVLPQPTNLA TPNTKRFKKE EILSSSDICQ
KLVNTQDMSA SQVDVAVKIN KKVVPLDFSM SSLAKRIKQL HHEAQQSEGE QNYRKFRAKI
CPGENQAAED ELRKEISKTM FAEMEIIGQF NLGFIITKLN EDIFIVDQHA TDEKYNFEML
QQHTVLQGQR LIAPQTLNLT AVNEAVLIEN LEIFRKNGFD FVIDENAPVT ERAKLISLPT
SKNWTFGPQD VDELIFMLSD SPGVMCRPSR VKQMFASRAC RKSVMIGTAL NTSEMKKLIT
HMGEMDHPWN CPHGRPTMRH IANLGVISQN *

Position of stopcodon in wt / mu CDS

2433 / 2433

Position (AA) of stopcodon in wt / mu AA sequence

811 / 811

Position of stopcodon in wt / mu cDNA

2463 / 2463

Position of start ATG in wt / mu cDNA

31 / 31

Last intron/exon boundary

2319

Theoretical NMD boundary in CDS

2238

Length of CDS

2433

Coding sequence (CDS) position

961

cDNA position

991

gDNA position

17131

Chromosomal position

5992000

Speed

0.35 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_5_ENST00000699818

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699818.1

Genbank transcript ID

NM_001406898 (by similarity), NM_001406897 (by similarity), NM_001406894 (by similarity), NM_001322005 (by similarity), NM_001406882 (by similarity), NM_001406877 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.556G>T
g.17131G>T

AA changes

AAE:	V186F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		186	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	186							H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFFVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Position of stopcodon in wt / mu CDS

2184 / 2184

Position (AA) of stopcodon in wt / mu AA sequence

728 / 728

Position of stopcodon in wt / mu cDNA

2809 / 2809

Position of start ATG in wt / mu cDNA

626 / 626

Last intron/exon boundary

2665

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

556

cDNA position

1181

gDNA position

17131

Chromosomal position

5992000

Speed

0.38 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_6_ENST00000699754

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699754.1

Genbank transcript ID

NM_001406886 (by similarity), NM_001406873 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.763G>T
g.17131G>T

AA changes

AAE:	V255F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		255	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	255	Y	H	M	Y	N	R	H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQVCRLV
NEVYHMYNRH QYPFVVLNIS VDSECVDINV TPDKRQILLQ EEKLLLAVLK TSLIGMFDSD
VNKLNVSQQP LLDVEGNLIK MHAADLEKPM VEKQDQSPSL RTGEEKKDVS ISRLREAFSL
RHTTENKPHS PKTPEPRRSP LGQKRGMLSS STSGAISDKG VLRPQKEAVS SSHGPSDPTD
RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS SEYAASSPGD RGSQEHVDSQ EKAPKTDDSF
SDVDCHSNQE DTGCKFRVLP QPTNLATPNT KRFKKEEILS SSDICQKLVN TQDMSASQVD
VAVKINKKVV PLDFSMSSLA KRIKQLHHEA QQSEGEQNYR KFRAKICPGE NQAAEDELRK
EISKTMFAEM EIIGQFNLGF IITKLNEDIF IVDQHATDEK YNFEMLQQHT VLQGQRLIAP
QTLNLTAVNE AVLIENLEIF RKNGFDFVID ENAPVTERAK LISLPTSKNW TFGPQDVDEL
IFMLSDSPGV MCRPSRVKQM FASRACRKSV MIGTALNTSE MKKLITHMGE MDHPWNCPHG
RPTMRHIANL GVISQN*

Mutated AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQVCRLV
NEVYHMYNRH QYPFFVLNIS VDSECVDINV TPDKRQILLQ EEKLLLAVLK TSLIGMFDSD
VNKLNVSQQP LLDVEGNLIK MHAADLEKPM VEKQDQSPSL RTGEEKKDVS ISRLREAFSL
RHTTENKPHS PKTPEPRRSP LGQKRGMLSS STSGAISDKG VLRPQKEAVS SSHGPSDPTD
RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS SEYAASSPGD RGSQEHVDSQ EKAPKTDDSF
SDVDCHSNQE DTGCKFRVLP QPTNLATPNT KRFKKEEILS SSDICQKLVN TQDMSASQVD
VAVKINKKVV PLDFSMSSLA KRIKQLHHEA QQSEGEQNYR KFRAKICPGE NQAAEDELRK
EISKTMFAEM EIIGQFNLGF IITKLNEDIF IVDQHATDEK YNFEMLQQHT VLQGQRLIAP
QTLNLTAVNE AVLIENLEIF RKNGFDFVID ENAPVTERAK LISLPTSKNW TFGPQDVDEL
IFMLSDSPGV MCRPSRVKQM FASRACRKSV MIGTALNTSE MKKLITHMGE MDHPWNCPHG
RPTMRHIANL GVISQN*

Position of stopcodon in wt / mu CDS

2391 / 2391

Position (AA) of stopcodon in wt / mu AA sequence

797 / 797

Position of stopcodon in wt / mu cDNA

2436 / 2436

Position of start ATG in wt / mu cDNA

46 / 46

Last intron/exon boundary

2292

Theoretical NMD boundary in CDS

2196

Length of CDS

2391

Coding sequence (CDS) position

763

cDNA position

808

gDNA position

17131

Chromosomal position

5992000

Speed

0.36 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

7:5992000C>A_7_ENST00000699760

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699760.1

Genbank transcript ID

NM_001322008 (by similarity), NM_001406902 (by similarity), NM_001406883 (by similarity), NM_001406901 (by similarity), NM_001406903 (by similarity), NM_001322007 (by similarity), NM_001406876 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.643G>T
g.17131G>T

AA changes

AAE:	V215F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		215	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	215	Y	H	M	Y	N	R	H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MWGRRRKLRR LNDVTISTCH ASAKVGTRLM FDHNGKIIQK TPYPRPRGTT VSVQQLFSTL
PVRHKEFQRN IKKEYAKMVQ VLHAYCIISA GIRVSCTNQL GQGKRQPVVC TGGSPSIKEN
IGSVFGQKQL QSLIPFVQLP PSDSVCEEYG LSCSDALHNL FYISGFISQC THGVGRSSTD
RQFFFINRRP CDPAKVCRLV NEVYHMYNRH QYPFVVLNIS VDSECVDINV TPDKRQILLQ
EEKLLLAVLK TSLIGMFDSD VNKLNVSQQP LLDVEGNLIK MHAADLEKPM VEKQDQSPSL
RTGEEKKDVS ISRLREAFSL RHTTENKPHS PKTPEPRRSP LGQKRGMLSS STSGAISDKG
VLRPQKEAVS SSHGPSDPTD RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS SEYAASSPGD
RGSQEHVDSQ EKAPKTDDSF SDVDCHSNQE DTGCKFRVLP QPTNLATPNT KRFKKEEILS
SSDICQKLVN TQDMSASQVD VAVKINKKVV PLDFSMSSLA KRIKQLHHEA QQSEGEQNYR
KFRAKICPGE NQAAEDELRK EISKTMFAEM EIIGQFNLGF IITKLNEDIF IVDQHATDEK
YNFEMLQQHT VLQGQRLIAP QTLNLTAVNE AVLIENLEIF RKNGFDFVID ENAPVTERAK
LISLPTSKNW TFGPQDVDEL IFMLSDSPGV MCRPSRVKQM FASRACRKSV MIGTALNTSE
MKKLITHMGE MDHPWNCPHG RPTMRHIANL GVISQN*

Mutated AA sequence

MWGRRRKLRR LNDVTISTCH ASAKVGTRLM FDHNGKIIQK TPYPRPRGTT VSVQQLFSTL
PVRHKEFQRN IKKEYAKMVQ VLHAYCIISA GIRVSCTNQL GQGKRQPVVC TGGSPSIKEN
IGSVFGQKQL QSLIPFVQLP PSDSVCEEYG LSCSDALHNL FYISGFISQC THGVGRSSTD
RQFFFINRRP CDPAKVCRLV NEVYHMYNRH QYPFFVLNIS VDSECVDINV TPDKRQILLQ
EEKLLLAVLK TSLIGMFDSD VNKLNVSQQP LLDVEGNLIK MHAADLEKPM VEKQDQSPSL
RTGEEKKDVS ISRLREAFSL RHTTENKPHS PKTPEPRRSP LGQKRGMLSS STSGAISDKG
VLRPQKEAVS SSHGPSDPTD RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS SEYAASSPGD
RGSQEHVDSQ EKAPKTDDSF SDVDCHSNQE DTGCKFRVLP QPTNLATPNT KRFKKEEILS
SSDICQKLVN TQDMSASQVD VAVKINKKVV PLDFSMSSLA KRIKQLHHEA QQSEGEQNYR
KFRAKICPGE NQAAEDELRK EISKTMFAEM EIIGQFNLGF IITKLNEDIF IVDQHATDEK
YNFEMLQQHT VLQGQRLIAP QTLNLTAVNE AVLIENLEIF RKNGFDFVID ENAPVTERAK
LISLPTSKNW TFGPQDVDEL IFMLSDSPGV MCRPSRVKQM FASRACRKSV MIGTALNTSE
MKKLITHMGE MDHPWNCPHG RPTMRHIANL GVISQN*

Position of stopcodon in wt / mu CDS

2271 / 2271

Position (AA) of stopcodon in wt / mu AA sequence

757 / 757

Position of stopcodon in wt / mu cDNA

2423 / 2423

Position of start ATG in wt / mu cDNA

153 / 153

Last intron/exon boundary

2279

Theoretical NMD boundary in CDS

2076

Length of CDS

2271

Coding sequence (CDS) position

643

cDNA position

795

gDNA position

17131

Chromosomal position

5992000

Speed

0.33 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

7:5992000C>A_8_ENST00000699821

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699821.1

Genbank transcript ID

NM_001406887 (by similarity), NM_001406888 (by similarity), NM_001322009 (by similarity), NM_001406875 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.556G>T
g.17131G>T

AA changes

AAE:	V186F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		186	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	186							H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENVMDFSQN CILLAPVTER AKLISLPTSK NWTFGPQDVD
ELIFMLSDSP GVMCRPSRVK QMFASRACRK SVMIGTALNT SEMKKLITHM GEMDHPWNCP
HGRPTMRHIA NLGVISQN*

Mutated AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFFVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENVMDFSQN CILLAPVTER AKLISLPTSK NWTFGPQDVD
ELIFMLSDSP GVMCRPSRVK QMFASRACRK SVMIGTALNT SEMKKLITHM GEMDHPWNCP
HGRPTMRHIA NLGVISQN*

Position of stopcodon in wt / mu CDS

2217 / 2217

Position (AA) of stopcodon in wt / mu AA sequence

739 / 739

Position of stopcodon in wt / mu cDNA

2703 / 2703

Position of start ATG in wt / mu cDNA

487 / 487

Last intron/exon boundary

2559

Theoretical NMD boundary in CDS

2022

Length of CDS

2217

Coding sequence (CDS) position

556

cDNA position

1042

gDNA position

17131

Chromosomal position

5992000

Speed

0.33 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_9_ENST00000699766

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699766.1

Genbank transcript ID

NM_001322014 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.961G>T
g.17131G>T

AA changes

AAE:	V321F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		321	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	321	Y	H	M	Y	N	R	H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF VVLNISVDSE CVDINVTPDK RQILLQEEKL LLAVLKTSLI
GMFDSDVNKL NVSQQPLLDV EGNLIKMHAA DLEKPMVEKQ DQSPSLRTGE EKKDVSISRL
REAFSLRHTT ENKPHSPKTP EPRRSPLGQK RGMLSSSTSG AISDKGVLRP QKEAVSSSHG
PSDPTDRAEV EKDSGHGSTS VDSEGFSIPD TGSHCSSEYA ASSPGDRGSQ EHVDSQEKAP
KTDDSFSDVD CHSNQEDTGC KFRVLPQPTN LATPNTKRFK KEEILSSSDI CQKLVNTQDM
SASQVDVAVK INKKVVPLDF SMSSLAKRIK QLHHEAQQSE GEQNYRKFRA KICPGENQAA
EDELRKEISK TMFAEMEIIG QFNLGFIITK LNEDIFIVDQ HATDEKYNFE MLQQHTVLQG
QRLIAPQTLN LTAVNEAVLI ENLEIFRKNG FDFVIDENVM DFSQNCILLA PVTERAKLIS
LPTSKNWTFG PQDVDELIFM LSDSPGVMCR PSRVKQMFAS RACRKSVMIG TALNTSEMKK
LITHMGEMDH PWNCPHGRPT MRHIANLGVI SQN*

Mutated AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF FVLNISVDSE CVDINVTPDK RQILLQEEKL LLAVLKTSLI
GMFDSDVNKL NVSQQPLLDV EGNLIKMHAA DLEKPMVEKQ DQSPSLRTGE EKKDVSISRL
REAFSLRHTT ENKPHSPKTP EPRRSPLGQK RGMLSSSTSG AISDKGVLRP QKEAVSSSHG
PSDPTDRAEV EKDSGHGSTS VDSEGFSIPD TGSHCSSEYA ASSPGDRGSQ EHVDSQEKAP
KTDDSFSDVD CHSNQEDTGC KFRVLPQPTN LATPNTKRFK KEEILSSSDI CQKLVNTQDM
SASQVDVAVK INKKVVPLDF SMSSLAKRIK QLHHEAQQSE GEQNYRKFRA KICPGENQAA
EDELRKEISK TMFAEMEIIG QFNLGFIITK LNEDIFIVDQ HATDEKYNFE MLQQHTVLQG
QRLIAPQTLN LTAVNEAVLI ENLEIFRKNG FDFVIDENVM DFSQNCILLA PVTERAKLIS
LPTSKNWTFG PQDVDELIFM LSDSPGVMCR PSRVKQMFAS RACRKSVMIG TALNTSEMKK
LITHMGEMDH PWNCPHGRPT MRHIANLGVI SQN*

Position of stopcodon in wt / mu CDS

2622 / 2622

Position (AA) of stopcodon in wt / mu AA sequence

874 / 874

Position of stopcodon in wt / mu cDNA

2725 / 2725

Position of start ATG in wt / mu cDNA

104 / 104

Last intron/exon boundary

2581

Theoretical NMD boundary in CDS

2427

Length of CDS

2622

Coding sequence (CDS) position

961

cDNA position

1064

gDNA position

17131

Chromosomal position

5992000

Speed

0.34 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

7:5992000C>A_10_ENST00000699768

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699768.1

Genbank transcript ID

NM_001406871 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.961G>T
g.17131G>T

AA changes

AAE:	V321F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		321	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	321	Y	H	M	Y	N	R	H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF VVLNISVDSE CVDINVTPDK RQILLQEEKL LLAVLKTSLI
GMFDSDVNKL NVSQQPLLDV EGNLIKMHAA DLEKPMVEKQ DQSPSLRTGE EKKDVSISRL
REAFSLRHTT ENKPHSPKTP EPRRSPLGQK RGMLSSSTSG AISDKGVLRP QKEAVSSSHG
PSDPTDRAEV EKDSGHGSTS VDSEGFSIPD TGSHCSSEYA ASSPGDRGSQ EHVDSQEKAP
KTDDSFSDVD CHSNQEDTGC KFRVLPQPTN LATPNTKRFK KEEILSSSDI CQKLVNTQDM
SASQVDVAVK INKKVVPLDF SMSSLAKRIK QLHHEAQQSE GEQNYRKFRA KICPGENQAA
EDELRKEISK TMFAEMEIIG QFNLGFIITK LNEDIFIVDQ HATDEKYNFE MLQQHTVLQG
QRLIAKNWTF GPQDVDELIF MLSDSPGVMC RPSRVKQMFA SRACRKSVMI GTALNTSEMK
KLITHMGEMD HPWNCPHGRP TMRHIANLGV ISQN*

Mutated AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYIS GFISQCTHGV GRSSTDRQFF FINRRPCDPA
KVCRLVNEVY HMYNRHQYPF FVLNISVDSE CVDINVTPDK RQILLQEEKL LLAVLKTSLI
GMFDSDVNKL NVSQQPLLDV EGNLIKMHAA DLEKPMVEKQ DQSPSLRTGE EKKDVSISRL
REAFSLRHTT ENKPHSPKTP EPRRSPLGQK RGMLSSSTSG AISDKGVLRP QKEAVSSSHG
PSDPTDRAEV EKDSGHGSTS VDSEGFSIPD TGSHCSSEYA ASSPGDRGSQ EHVDSQEKAP
KTDDSFSDVD CHSNQEDTGC KFRVLPQPTN LATPNTKRFK KEEILSSSDI CQKLVNTQDM
SASQVDVAVK INKKVVPLDF SMSSLAKRIK QLHHEAQQSE GEQNYRKFRA KICPGENQAA
EDELRKEISK TMFAEMEIIG QFNLGFIITK LNEDIFIVDQ HATDEKYNFE MLQQHTVLQG
QRLIAKNWTF GPQDVDELIF MLSDSPGVMC RPSRVKQMFA SRACRKSVMI GTALNTSEMK
KLITHMGEMD HPWNCPHGRP TMRHIANLGV ISQN*

Position of stopcodon in wt / mu CDS

2445 / 2445

Position (AA) of stopcodon in wt / mu AA sequence

815 / 815

Position of stopcodon in wt / mu cDNA

2548 / 2548

Position of start ATG in wt / mu cDNA

104 / 104

Last intron/exon boundary

2404

Theoretical NMD boundary in CDS

2250

Length of CDS

2445

Coding sequence (CDS) position

961

cDNA position

1064

gDNA position

17131

Chromosomal position

5992000

Speed

0.35 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

7:5992000C>A_11_ENST00000699839

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699839.1

Genbank transcript ID

NM_001406866 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1147G>T
g.17131G>T

AA changes

AAE:	V383F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		383	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	383	Y	H	M	Y	N	R	H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MERAESSSKD GVSPCWPGWC RTPDLKLSTH LCFPKCWDYR HEPPQPAMLS LFKKEDTIVA
KDFGNLRDTI TEPAKAIKPI DRKSVHQICS GQVVLSLSTA VKELVENSLD AGATNIDLKL
KDYGVDLIEV SDNGCGVEEE NFEGLTLKHH TSKIQEFADL TQVETFGFRG EALSSLCALS
DVTISTCHAS AKVGTRLMFD HNGKIIQKTP YPRPRGTTVS VQQLFSTLPV RHKEFQRNIK
KEYAKMVQVL HAYCIISAGI RVSCTNQLGQ GKRQPVVCTG GSPSIKENIG SVFGQKQLQS
LIPFVQLPPS DSVCEEYGLS CSDALHNLFY ISGFISQCTH GVGRSSTDRQ FFFINRRPCD
PAKVCRLVNE VYHMYNRHQY PFVVLNISVD SECVDINVTP DKRQILLQEE KLLLAVLKTS
LIGMFDSDVN KLNVSQQPLL DVEGNLIKMH AADLEKPMVE KQDQSPSLRT GEEKKDVSIS
RLREAFSLRH TTENKPHSPK TPEPRRSPLG QKRGMLSSST SGAISDKGVL RPQKEAVSSS
HGPSDPTDRA EVEKDSGHGS TSVDSEGFSI PDTGSHCSSE YAASSPGDRG SQEHVDSQEK
APKTDDSFSD VDCHSNQEDT GCKFRVLPQP TNLATPNTKR FKKEEILSSS DICQKLVNTQ
DMSASQVDVA VKINKKVVPL DFSMSSLAKR IKQLHHEAQQ SEGEQNYRKF RAKICPGENQ
AAEDELRKEI SKTMFAEMEI IGQFNLGFII TKLNEDIFIV DQHATDEKYN FEMLQQHTVL
QGQRLIAPQT LNLTAVNEAV LIENLEIFRK NGFDFVIDEN APVTERAKLI SLPTSKNWTF
GPQDVDELIF MLSDSPGVMC RPSRVKQMFA SRACRKSVMI GTALNTSEMK KLITHMGEMD
HPWNCPHGRP TMRHIANLGV ISQN*

Mutated AA sequence

MERAESSSKD GVSPCWPGWC RTPDLKLSTH LCFPKCWDYR HEPPQPAMLS LFKKEDTIVA
KDFGNLRDTI TEPAKAIKPI DRKSVHQICS GQVVLSLSTA VKELVENSLD AGATNIDLKL
KDYGVDLIEV SDNGCGVEEE NFEGLTLKHH TSKIQEFADL TQVETFGFRG EALSSLCALS
DVTISTCHAS AKVGTRLMFD HNGKIIQKTP YPRPRGTTVS VQQLFSTLPV RHKEFQRNIK
KEYAKMVQVL HAYCIISAGI RVSCTNQLGQ GKRQPVVCTG GSPSIKENIG SVFGQKQLQS
LIPFVQLPPS DSVCEEYGLS CSDALHNLFY ISGFISQCTH GVGRSSTDRQ FFFINRRPCD
PAKVCRLVNE VYHMYNRHQY PFFVLNISVD SECVDINVTP DKRQILLQEE KLLLAVLKTS
LIGMFDSDVN KLNVSQQPLL DVEGNLIKMH AADLEKPMVE KQDQSPSLRT GEEKKDVSIS
RLREAFSLRH TTENKPHSPK TPEPRRSPLG QKRGMLSSST SGAISDKGVL RPQKEAVSSS
HGPSDPTDRA EVEKDSGHGS TSVDSEGFSI PDTGSHCSSE YAASSPGDRG SQEHVDSQEK
APKTDDSFSD VDCHSNQEDT GCKFRVLPQP TNLATPNTKR FKKEEILSSS DICQKLVNTQ
DMSASQVDVA VKINKKVVPL DFSMSSLAKR IKQLHHEAQQ SEGEQNYRKF RAKICPGENQ
AAEDELRKEI SKTMFAEMEI IGQFNLGFII TKLNEDIFIV DQHATDEKYN FEMLQQHTVL
QGQRLIAPQT LNLTAVNEAV LIENLEIFRK NGFDFVIDEN APVTERAKLI SLPTSKNWTF
GPQDVDELIF MLSDSPGVMC RPSRVKQMFA SRACRKSVMI GTALNTSEMK KLITHMGEMD
HPWNCPHGRP TMRHIANLGV ISQN*

Position of stopcodon in wt / mu CDS

2775 / 2775

Position (AA) of stopcodon in wt / mu AA sequence

925 / 925

Position of stopcodon in wt / mu cDNA

2840 / 2840

Position of start ATG in wt / mu cDNA

66 / 66

Last intron/exon boundary

2696

Theoretical NMD boundary in CDS

2580

Length of CDS

2775

Coding sequence (CDS) position

1147

cDNA position

1212

gDNA position

17131

Chromosomal position

5992000

Speed

0.37 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

7:5992000C>A_12_ENST00000699823

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699823.1

Genbank transcript ID

NM_001406895 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.556G>T
g.17131G>T

AA changes

AAE:	V186F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		186	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	186							H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFFVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Position of stopcodon in wt / mu CDS

2184 / 2184

Position (AA) of stopcodon in wt / mu AA sequence

728 / 728

Position of stopcodon in wt / mu cDNA

2441 / 2441

Position of start ATG in wt / mu cDNA

258 / 258

Last intron/exon boundary

2297

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

556

cDNA position

813

gDNA position

17131

Chromosomal position

5992000

Speed

0.13 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_13_ENST00000699840

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699840.2

Genbank transcript ID

NM_001406885 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.958G>T
g.17131G>T

AA changes

AAE:	V320F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		320	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	320	Y	H	M	Y	N	R	H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKY
AKMVQVLHAY CIISAGIRVS CTNQLGQGKR QPVVCTGGSP SIKENIGSVF GQKQLQSLIP
FVQLPPSDSV CEEYGLSCSD ALHNLFYISG FISQCTHGVG RSSTDRQFFF INRRPCDPAK
VCRLVNEVYH MYNRHQYPFV VLNISVDSEC VDINVTPDKR QILLQEEKLL LAVLKTSLIG
MFDSDVNKLN VSQQPLLDVE GNLIKMHAAD LEKPMVEKQD QSPSLRTGEE KKDVSISRLR
EAFSLRHTTE NKPHSPKTPE PRRSPLGQKR GMLSSSTSGA ISDKGVLRPQ KEAVSSSHGP
SDPTDRAEVE KDSGHGSTSV DSEGFSIPDT GSHCSSEYAA SSPGDRGSQE HVDSQEKAPK
TDDSFSDVDC HSNQEDTGCK FRVLPQPTNL ATPNTKRFKK EEILSSSDIC QKLVNTQDMS
ASQVDVAVKI NKKVVPLDFS MSSLAKRIKQ LHHEAQQSEG EQNYRKFRAK ICPGENQAAE
DELRKEISKT MFAEMEIIGQ FNLGFIITKL NEDIFIVDQH ATDEKYNFEM LQQHTVLQGQ
RLIAPQTLNL TAVNEAVLIE NLEIFRKNGF DFVIDENAPV TERAKLISLP TSKNWTFGPQ
DVDELIFMLS DSPGVMCRPS RVKQMFASRA CRKSVMIGTA LNTSEMKKLI THMGEMDHPW
NCPHGRPTMR HIANLGVISQ N*

Mutated AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKY
AKMVQVLHAY CIISAGIRVS CTNQLGQGKR QPVVCTGGSP SIKENIGSVF GQKQLQSLIP
FVQLPPSDSV CEEYGLSCSD ALHNLFYISG FISQCTHGVG RSSTDRQFFF INRRPCDPAK
VCRLVNEVYH MYNRHQYPFF VLNISVDSEC VDINVTPDKR QILLQEEKLL LAVLKTSLIG
MFDSDVNKLN VSQQPLLDVE GNLIKMHAAD LEKPMVEKQD QSPSLRTGEE KKDVSISRLR
EAFSLRHTTE NKPHSPKTPE PRRSPLGQKR GMLSSSTSGA ISDKGVLRPQ KEAVSSSHGP
SDPTDRAEVE KDSGHGSTSV DSEGFSIPDT GSHCSSEYAA SSPGDRGSQE HVDSQEKAPK
TDDSFSDVDC HSNQEDTGCK FRVLPQPTNL ATPNTKRFKK EEILSSSDIC QKLVNTQDMS
ASQVDVAVKI NKKVVPLDFS MSSLAKRIKQ LHHEAQQSEG EQNYRKFRAK ICPGENQAAE
DELRKEISKT MFAEMEIIGQ FNLGFIITKL NEDIFIVDQH ATDEKYNFEM LQQHTVLQGQ
RLIAPQTLNL TAVNEAVLIE NLEIFRKNGF DFVIDENAPV TERAKLISLP TSKNWTFGPQ
DVDELIFMLS DSPGVMCRPS RVKQMFASRA CRKSVMIGTA LNTSEMKKLI THMGEMDHPW
NCPHGRPTMR HIANLGVISQ N*

Position of stopcodon in wt / mu CDS

2586 / 2586

Position (AA) of stopcodon in wt / mu AA sequence

862 / 862

Position of stopcodon in wt / mu cDNA

2654 / 2654

Position of start ATG in wt / mu cDNA

69 / 69

Last intron/exon boundary

2510

Theoretical NMD boundary in CDS

2391

Length of CDS

2586

Coding sequence (CDS) position

958

cDNA position

1026

gDNA position

17131

Chromosomal position

5992000

Speed

0.36 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

7:5992000C>A_14_ENST00000699827

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699827.1

Genbank transcript ID

NM_001406874 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.793G>T
g.17131G>T

AA changes

AAE:	V265F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		265	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	265	Y	H	M	Y	N	R	H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKL
QSLIPFVQLP PSDSVCEEYG LSCSDALHNL FYISGFISQC THGVGRSSTD RQFFFINRRP
CDPAKVCRLV NEVYHMYNRH QYPFVVLNIS VDSECVDINV TPDKRQILLQ EEKLLLAVLK
TSLIGMFDSD VNKLNVSQQP LLDVEGNLIK MHAADLEKPM VEKQDQSPSL RTGEEKKDVS
ISRLREAFSL RHTTENKPHS PKTPEPRRSP LGQKRGMLSS STSGAISDKG VLRPQKEAVS
SSHGPSDPTD RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS SEYAASSPGD RGSQEHVDSQ
EKAPKTDDSF SDVDCHSNQE DTGCKFRVLP QPTNLATPNT KRFKKEEILS SSDICQKLVN
TQDMSASQVD VAVKINKKVV PLDFSMSSLA KRIKQLHHEA QQSEGEQNYR KFRAKICPGE
NQAAEDELRK EISKTMFAEM EIIGQFNLGF IITKLNEDIF IVDQHATDEK YNFEMLQQHT
VLQGQRLIAP QTLNLTAVNE AVLIENLEIF RKNGFDFVID ENAPVTERAK LISLPTSKNW
TFGPQDVDEL IFMLSDSPGV MCRPSRVKQM FASRACRKSV MIGTALNTSE MKKLITHMGE
MDHPWNCPHG RPTMRHIANL GVISQN*

Mutated AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKL
QSLIPFVQLP PSDSVCEEYG LSCSDALHNL FYISGFISQC THGVGRSSTD RQFFFINRRP
CDPAKVCRLV NEVYHMYNRH QYPFFVLNIS VDSECVDINV TPDKRQILLQ EEKLLLAVLK
TSLIGMFDSD VNKLNVSQQP LLDVEGNLIK MHAADLEKPM VEKQDQSPSL RTGEEKKDVS
ISRLREAFSL RHTTENKPHS PKTPEPRRSP LGQKRGMLSS STSGAISDKG VLRPQKEAVS
SSHGPSDPTD RAEVEKDSGH GSTSVDSEGF SIPDTGSHCS SEYAASSPGD RGSQEHVDSQ
EKAPKTDDSF SDVDCHSNQE DTGCKFRVLP QPTNLATPNT KRFKKEEILS SSDICQKLVN
TQDMSASQVD VAVKINKKVV PLDFSMSSLA KRIKQLHHEA QQSEGEQNYR KFRAKICPGE
NQAAEDELRK EISKTMFAEM EIIGQFNLGF IITKLNEDIF IVDQHATDEK YNFEMLQQHT
VLQGQRLIAP QTLNLTAVNE AVLIENLEIF RKNGFDFVID ENAPVTERAK LISLPTSKNW
TFGPQDVDEL IFMLSDSPGV MCRPSRVKQM FASRACRKSV MIGTALNTSE MKKLITHMGE
MDHPWNCPHG RPTMRHIANL GVISQN*

Position of stopcodon in wt / mu CDS

2421 / 2421

Position (AA) of stopcodon in wt / mu AA sequence

807 / 807

Position of stopcodon in wt / mu cDNA

2501 / 2501

Position of start ATG in wt / mu cDNA

81 / 81

Last intron/exon boundary

2357

Theoretical NMD boundary in CDS

2226

Length of CDS

2421

Coding sequence (CDS) position

793

cDNA position

873

gDNA position

17131

Chromosomal position

5992000

Speed

0.38 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_18_ENST00000699825

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699825.1

Genbank transcript ID

NM_001322010 (by similarity), NM_001406906 (by similarity), NM_001406900 (by similarity), NM_001406907 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.556G>T
g.17131G>T

AA changes

AAE:	V186F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		186	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	G	N	L	I
mutated	not conserved	186							H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	G	N	L
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSGNLIKM HAADLEKPMV EKQDQSPSLR TGEEKKDVSI SRLREAFSLR
HTTENKPHSP KTPEPRRSPL GQKRGMLSSS TSGAISDKGV LRPQKEAVSS SHGPSDPTDR
AEVEKDSGHG STSVDSEGFS IPDTGSHCSS EYAASSPGDR GSQEHVDSQE KAPKTDDSFS
DVDCHSNQED TGCKFRVLPQ PTNLATPNTK RFKKEEILSS SDICQKLVNT QDMSASQVDV
AVKINKKVVP LDFSMSSLAK RIKQLHHEAQ QSEGEQNYRK FRAKICPGEN QAAEDELRKE
ISKTMFAEME IIGQFNLGFI ITKLNEDIFI VDQHATDEKY NFEMLQQHTV LQGQRLIAPQ
TLNLTAVNEA VLIENLEIFR KNGFDFVIDE NAPVTERAKL ISLPTSKNWT FGPQDVDELI
FMLSDSPGVM CRPSRVKQMF ASRACRKSVM IGTALNTSEM KKLITHMGEM DHPWNCPHGR
PTMRHIANLG VISQN*

Mutated AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFFVLNI SVDSGNLIKM HAADLEKPMV EKQDQSPSLR TGEEKKDVSI SRLREAFSLR
HTTENKPHSP KTPEPRRSPL GQKRGMLSSS TSGAISDKGV LRPQKEAVSS SHGPSDPTDR
AEVEKDSGHG STSVDSEGFS IPDTGSHCSS EYAASSPGDR GSQEHVDSQE KAPKTDDSFS
DVDCHSNQED TGCKFRVLPQ PTNLATPNTK RFKKEEILSS SDICQKLVNT QDMSASQVDV
AVKINKKVVP LDFSMSSLAK RIKQLHHEAQ QSEGEQNYRK FRAKICPGEN QAAEDELRKE
ISKTMFAEME IIGQFNLGFI ITKLNEDIFI VDQHATDEKY NFEMLQQHTV LQGQRLIAPQ
TLNLTAVNEA VLIENLEIFR KNGFDFVIDE NAPVTERAKL ISLPTSKNWT FGPQDVDELI
FMLSDSPGVM CRPSRVKQMF ASRACRKSVM IGTALNTSEM KKLITHMGEM DHPWNCPHGR
PTMRHIANLG VISQN*

Position of stopcodon in wt / mu CDS

2028 / 2028

Position (AA) of stopcodon in wt / mu AA sequence

676 / 676

Position of stopcodon in wt / mu cDNA

2484 / 2484

Position of start ATG in wt / mu cDNA

457 / 457

Last intron/exon boundary

2340

Theoretical NMD boundary in CDS

1833

Length of CDS

2028

Coding sequence (CDS) position

556

cDNA position

1012

gDNA position

17131

Chromosomal position

5992000

Speed

0.35 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_19_ENST00000699837

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699837.1

Genbank transcript ID

NM_001406896 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.556G>T
g.17131G>T

AA changes

AAE:	V186F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		186	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	186							H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFFVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Position of stopcodon in wt / mu CDS

2184 / 2184

Position (AA) of stopcodon in wt / mu AA sequence

728 / 728

Position of stopcodon in wt / mu cDNA

2526 / 2526

Position of start ATG in wt / mu cDNA

343 / 343

Last intron/exon boundary

2382

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

556

cDNA position

898

gDNA position

17131

Chromosomal position

5992000

Speed

0.36 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

7:5992000C>A_20_ENST00000699761

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699761.1

Genbank transcript ID

NM_001406904 (by similarity), NM_001406889 (by similarity), NM_001406892 (by similarity), NM_001406899 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.556G>T
g.17131G>T

AA changes

AAE:	V186F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		186	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	186							H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFVVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Mutated AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKEYAKMV QVLHAYCIIS
AGIRVSCTNQ LGQGKRQPVV CTGGSPSIKE NIGSVFGQKQ LQSLIPFVQL PPSDSVCEEY
GLSCSDALHN LFYISGFISQ CTHGVGRSST DRQFFFINRR PCDPAKVCRL VNEVYHMYNR
HQYPFFVLNI SVDSECVDIN VTPDKRQILL QEEKLLLAVL KTSLIGMFDS DVNKLNVSQQ
PLLDVEGNLI KMHAADLEKP MVEKQDQSPS LRTGEEKKDV SISRLREAFS LRHTTENKPH
SPKTPEPRRS PLGQKRGMLS SSTSGAISDK GVLRPQKEAV SSSHGPSDPT DRAEVEKDSG
HGSTSVDSEG FSIPDTGSHC SSEYAASSPG DRGSQEHVDS QEKAPKTDDS FSDVDCHSNQ
EDTGCKFRVL PQPTNLATPN TKRFKKEEIL SSSDICQKLV NTQDMSASQV DVAVKINKKV
VPLDFSMSSL AKRIKQLHHE AQQSEGEQNY RKFRAKICPG ENQAAEDELR KEISKTMFAE
MEIIGQFNLG FIITKLNEDI FIVDQHATDE KYNFEMLQQH TVLQGQRLIA PQTLNLTAVN
EAVLIENLEI FRKNGFDFVI DENAPVTERA KLISLPTSKN WTFGPQDVDE LIFMLSDSPG
VMCRPSRVKQ MFASRACRKS VMIGTALNTS EMKKLITHMG EMDHPWNCPH GRPTMRHIAN
LGVISQN*

Position of stopcodon in wt / mu CDS

2184 / 2184

Position (AA) of stopcodon in wt / mu AA sequence

728 / 728

Position of stopcodon in wt / mu cDNA

2609 / 2609

Position of start ATG in wt / mu cDNA

426 / 426

Last intron/exon boundary

2465

Theoretical NMD boundary in CDS

1989

Length of CDS

2184

Coding sequence (CDS) position

556

cDNA position

981

gDNA position

17131

Chromosomal position

5992000

Speed

0.34 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

7:5992000C>A_21_ENST00000699762

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 100|0 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

no data

Ensembl transcript ID

ENST00000699762.1

Genbank transcript ID

NM_001406911 (by similarity), NM_001322013 (by similarity), NM_001322012 (by similarity), NM_001406909 (by similarity), NM_001322011 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.388G>T
g.17131G>T

AA changes

AAE:	V130F	?
Score:	50

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		130	Y	H	M	Y	N	R	H	Q	Y	P	F	V	V	L	N	I	S	V	D	S	E	C	V	D
mutated	not conserved	130			M	Y	N	R	H	Q	Y	P	F	F	V	L	N	I	S	V	D	S	E	C	V
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered cDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Wildtype AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKLQSLIP FVQLPPSDSV
CEEYGLSCSD ALHNLFYISG FISQCTHGVG RSSTDRQFFF INRRPCDPAK VCRLVNEVYH
MYNRHQYPFV VLNISVDSEC VDINVTPDKR QILLQEEKLL LAVLKTSLIG MFDSDVNKLN
VSQQPLLDVE GNLIKMHAAD LEKPMVEKQD QSPSLRTGEE KKDVSISRLR EAFSLRHTTE
NKPHSPKTPE PRRSPLGQKR GMLSSSTSGA ISDKGVLRPQ KEAVSSSHGP SDPTDRAEVE
KDSGHGSTSV DSEGFSIPDT GSHCSSEYAA SSPGDRGSQE HVDSQEKAPK TDDSFSDVDC
HSNQEDTGCK FRVLPQPTNL ATPNTKRFKK EEILSSSDIC QKLVNTQDMS ASQVDVAVKI
NKKVVPLDFS MSSLAKRIKQ LHHEAQQSEG EQNYRKFRAK ICPGENQAAE DELRKEISKT
MFAEMEIIGQ FNLGFIITKL NEDIFIVDQH ATDEKYNFEM LQQHTVLQGQ RLIAPQTLNL
TAVNEAVLIE NLEIFRKNGF DFVIDENAPV TERAKLISLP TSKNWTFGPQ DVDELIFMLS
DSPGVMCRPS RVKQMFASRA CRKSVMIGTA LNTSEMKKLI THMGEMDHPW NCPHGRPTMR
HIANLGVISQ N*

Mutated AA sequence

MFDHNGKIIQ KTPYPRPRGT TVSVQQLFST LPVRHKEFQR NIKKLQSLIP FVQLPPSDSV
CEEYGLSCSD ALHNLFYISG FISQCTHGVG RSSTDRQFFF INRRPCDPAK VCRLVNEVYH
MYNRHQYPFF VLNISVDSEC VDINVTPDKR QILLQEEKLL LAVLKTSLIG MFDSDVNKLN
VSQQPLLDVE GNLIKMHAAD LEKPMVEKQD QSPSLRTGEE KKDVSISRLR EAFSLRHTTE
NKPHSPKTPE PRRSPLGQKR GMLSSSTSGA ISDKGVLRPQ KEAVSSSHGP SDPTDRAEVE
KDSGHGSTSV DSEGFSIPDT GSHCSSEYAA SSPGDRGSQE HVDSQEKAPK TDDSFSDVDC
HSNQEDTGCK FRVLPQPTNL ATPNTKRFKK EEILSSSDIC QKLVNTQDMS ASQVDVAVKI
NKKVVPLDFS MSSLAKRIKQ LHHEAQQSEG EQNYRKFRAK ICPGENQAAE DELRKEISKT
MFAEMEIIGQ FNLGFIITKL NEDIFIVDQH ATDEKYNFEM LQQHTVLQGQ RLIAPQTLNL
TAVNEAVLIE NLEIFRKNGF DFVIDENAPV TERAKLISLP TSKNWTFGPQ DVDELIFMLS
DSPGVMCRPS RVKQMFASRA CRKSVMIGTA LNTSEMKKLI THMGEMDHPW NCPHGRPTMR
HIANLGVISQ N*

Position of stopcodon in wt / mu CDS

2016 / 2016

Position (AA) of stopcodon in wt / mu AA sequence

672 / 672

Position of stopcodon in wt / mu cDNA

2496 / 2496

Position of start ATG in wt / mu cDNA

481 / 481

Last intron/exon boundary

2352

Theoretical NMD boundary in CDS

1821

Length of CDS

2016

Coding sequence (CDS) position

388

cDNA position

868

gDNA position

17131

Chromosomal position

5992000

Speed

0.36 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

7:5992000C>A_17_ENST00000382321

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Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 159|41 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:5992000C>A (GRCh38)

Gene symbol

PMS2

Gene constraints

LOEUF: 1.04, LOF (oe): 0.73, misssense (oe): 0.93, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000382321.5

Genbank transcript ID

NM_001406912 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.803+5326G>T
g.17131G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	1	1

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.92	1
	2.458	1
(flanking)	5.066	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

-1

Original gDNA sequence snippet

ATCGACACCAGTATCCATTTGTTGTTCTTAACATTTCTGTT

Altered gDNA sequence snippet

ATCGACACCAGTATCCATTTTTTGTTCTTAACATTTCTGTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MERAESSSTE PAKAIKPIDR KSVHQICSGQ VVLSLSTAVK ELVENSLDAG ATNIDLKLKD
YGVDLIEVSD NGCGVEEENF EGLTLKHHTS KIQEFADLTQ VETFGFRGEA LSSLCALSDV
TISTCHASAK VGTRLMFDHN GKIIQKTPYP RPRGTTVSVQ QLFSTLPVRH KEFQRNIKKE
YAKMVQVLHA YCIISAGIRV SCTNQLGQGK RQPVVCTGGS PSIKENIGSV FGQKQLQSLI
PFVQLPPSDS VCEEYGLSCS DALHNLFYKT MFAEMEIIGQ FNLGFIITKL NEDIFIVDQH
ATDEKYNFEM LQQHTVLQGQ RLIAPQTLNL TAVNEAVLIE NLEIFRKNGF DFVIDENAPV
TERAKLISLP TSKNWTFGPQ DVDELIFMLS DSPGVMCRPS RVKQMFASRA CRKSVMIGTA
LNTSEMKKLI THMGEMDHPW NCPHGRPTMR HIANLGVISQ N*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

1 / 1

Last intron/exon boundary

1242

Theoretical NMD boundary in CDS

1191

Length of CDS

1386

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

17131

Chromosomal position

5992000

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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