MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000592409
Querying Taster for transcript #2: ENST00000347900
Querying Taster for transcript #3: ENST00000360202
Querying Taster for transcript #4: ENST00000262625
MT speed 0.24 s - this script 2.635916 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000262625	KIRREL2	Deleterious	79\|21	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000360202(MANE Select)	KIRREL2	Deleterious	83\|17	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000592409	KIRREL2	Deleterious	85\|15	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000347900	KIRREL2	Deleterious	86\|14	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

19:35860529G>A_4_ENST00000262625

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 79|21 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:35860529G>A (GRCh38)

Gene symbol

KIRREL2

Gene constraints

LOEUF: 1.04, LOF (oe): 0.82, misssense (oe): 0.96, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000262625.7

Genbank transcript ID

NM_032123 (by similarity)

UniProt / AlphaMissense peptide

KIRR2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.790G>A
g.4669G>A

AA changes

AAE:	G264R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs762476394
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	27	27

Protein conservation

Species	Match	AA	Alignment
Human		264	Q	P	P	V	T	G	Y	R	W	A	K	G	G	S	P	V	L	G	A	R	G	P	R	L
mutated	not conserved	264	Q	P	P	V	T	G	Y	R	W	A	K	R	G	S	P	V	L	G	A	R	G	P	R
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

Start (aa)	End (aa)	Feature	Details
21	510	TOPO_DOM	Extracellular	lost
21	708	CHAIN		lost
227	307	DOMAIN	Ig-like C2-type	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.078	0.95
	5.213	1
(flanking)	5.213	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

11

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

ATTTCCTCAGGTGGGCAAAAGGGGGCTCTCCGGTGCTCGGG

Altered gDNA sequence snippet

ATTTCCTCAGGTGGGCAAAAAGGGGCTCTCCGGTGCTCGGG

Original cDNA sequence snippet

CAGGCTACAGGTGGGCAAAAGGGGGCTCTCCGGTGCTCGGG

Altered cDNA sequence snippet

CAGGCTACAGGTGGGCAAAAAGGGGCTCTCCGGTGCTCGGG

Wildtype AA sequence

MLRMRVPALL VLLFCFRGRA GPSPHFLQQP EDLVVLLGEE ARLPCALGAY WGLVQWTKSG
LALGGQRDLP GWSRYWISGN AANGQHDLHI RPVELEDEAS YECQATQAGL RSRPAQLHVL
VPPEAPQVLG GPSVSLVAGV PANLTCRSRG DARPTPELLW FRDGVLLDGA TFHQTLLKEG
TPGSVESTLT LTPFSHDDGA TFVCRARSQA LPTGRDTAIT LSLQYPPEVT LSASPHTVQE
GEKVIFLCQA TAQPPVTGYR WAKGGSPVLG ARGPRLEVVA DASFLTEPVS CEVSNAVGSA
NRSTALDVLF GPILQAKPEP VSVDVGEDAS FSCAWRGNPL PRVTWTRRGG AQVLGSGATL
RLPSVGPEDA GDYVCRAEAG LSGLRGGAAE ARLTVNAPPV VTALHSAPAF LRGPARLQCL
VFASPAPDAV VWSWDEGFLE AGSQGRFLVE TFPAPESRGG LGPGLISVLH ISGTQESDFS
RSFNCSARNR LGEGGAQASL GRRDLLPTVR IVAGVAAATT TLLMVITGVA LCCWRHSKAS
ASFSEQKNLM RIPGSSDGSS SRGPEEEETG SREDRGPIVH TDHSDLVLEE EGTLETKDPT
NGYYKVRGVS PPASPDSRVT SFQWKSPGIS NLP*

Mutated AA sequence

MLRMRVPALL VLLFCFRGRA GPSPHFLQQP EDLVVLLGEE ARLPCALGAY WGLVQWTKSG
LALGGQRDLP GWSRYWISGN AANGQHDLHI RPVELEDEAS YECQATQAGL RSRPAQLHVL
VPPEAPQVLG GPSVSLVAGV PANLTCRSRG DARPTPELLW FRDGVLLDGA TFHQTLLKEG
TPGSVESTLT LTPFSHDDGA TFVCRARSQA LPTGRDTAIT LSLQYPPEVT LSASPHTVQE
GEKVIFLCQA TAQPPVTGYR WAKRGSPVLG ARGPRLEVVA DASFLTEPVS CEVSNAVGSA
NRSTALDVLF GPILQAKPEP VSVDVGEDAS FSCAWRGNPL PRVTWTRRGG AQVLGSGATL
RLPSVGPEDA GDYVCRAEAG LSGLRGGAAE ARLTVNAPPV VTALHSAPAF LRGPARLQCL
VFASPAPDAV VWSWDEGFLE AGSQGRFLVE TFPAPESRGG LGPGLISVLH ISGTQESDFS
RSFNCSARNR LGEGGAQASL GRRDLLPTVR IVAGVAAATT TLLMVITGVA LCCWRHSKAS
ASFSEQKNLM RIPGSSDGSS SRGPEEEETG SREDRGPIVH TDHSDLVLEE EGTLETKDPT
NGYYKVRGVS PPASPDSRVT SFQWKSPGIS NLP*

Position of stopcodon in wt / mu CDS

1902 / 1902

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

634 / 634

Position of stopcodon in wt / mu cDNA

1916 / 1916

Position of start ATG in wt / mu cDNA

15 / 15

Last intron/exon boundary

1844

Theoretical NMD boundary in CDS

1779

Length of CDS

1902

Coding sequence (CDS) position

790

cDNA position

804

gDNA position

4669

Chromosomal position

35860529

Speed

0.05 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:

19:35860529G>A_3_ENST00000360202

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 83|17 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:35860529G>A (GRCh38)

Gene symbol

KIRREL2

Gene constraints

LOEUF: 1.04, LOF (oe): 0.83, misssense (oe): 0.97, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000360202.10

Genbank transcript ID

NM_199180 (exact from MANE), NM_001329530 (by similarity)

UniProt / AlphaMissense peptide

KIRR2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.790G>A
g.4669G>A

AA changes

AAE:	G264R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs762476394
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	27	27

Protein conservation

Species	Match	AA	Alignment
Human		264	Q	P	P	V	T	G	Y	R	W	A	K	G	G	S	P	V	L	G	A	R	G	P	R	L
mutated	not conserved	264	Q	P	P	V	T	G	Y	R	W	A	K	R	G	S	P	V	L	G	A	R	G	P	R
Ptroglodytes	all identical	264	Q	P	P	V	T	G	Y	R	W	A	K	G	G	S	P	V	L	G	A	R	G	P	R
Mmulatta	all identical	262									W	A	K	G	G	S	P	V	L	G	A	R	G	P	R
Fcatus	all identical	414	Q	P	P	V	T	G	Y	R	W	A	K	G	G	S	P	V	L	G	A	R	G	P	M
Mmusculus	all identical	261	Q	P	P	V	T	G	Y	R	W	A	K	G	G	S	P	V	L	G	A	R	G	P	R
Ggallus	no homologue
Trubripes	all identical	258	N	P	E	I	T	G	Y	R	W	S	K	G	G	V	P	I	S	E	A	N	G	D	S
Drerio	no homologue
Dmelanogaster	not conserved	276	N	P	S	D	V	R	Y	R	W	F	I	N	D	E	P	I	I	G	-
Celegans	no homologue
Xtropicalis	all identical	265									W	A	K	G	G	V	P	-	L	A	V	S	G	D	K

Protein features

Start (aa)	End (aa)	Feature	Details
21	510	TOPO_DOM	Extracellular	lost
21	708	CHAIN		lost
227	307	DOMAIN	Ig-like C2-type	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.078	0.95
	5.213	1
(flanking)	5.213	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

11

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

ATTTCCTCAGGTGGGCAAAAGGGGGCTCTCCGGTGCTCGGG

Altered gDNA sequence snippet

ATTTCCTCAGGTGGGCAAAAAGGGGCTCTCCGGTGCTCGGG

Original cDNA sequence snippet

CAGGCTACAGGTGGGCAAAAGGGGGCTCTCCGGTGCTCGGG

Altered cDNA sequence snippet

CAGGCTACAGGTGGGCAAAAAGGGGCTCTCCGGTGCTCGGG

Wildtype AA sequence

MLRMRVPALL VLLFCFRGRA GPSPHFLQQP EDLVVLLGEE ARLPCALGAY WGLVQWTKSG
LALGGQRDLP GWSRYWISGN AANGQHDLHI RPVELEDEAS YECQATQAGL RSRPAQLHVL
VPPEAPQVLG GPSVSLVAGV PANLTCRSRG DARPTPELLW FRDGVLLDGA TFHQTLLKEG
TPGSVESTLT LTPFSHDDGA TFVCRARSQA LPTGRDTAIT LSLQYPPEVT LSASPHTVQE
GEKVIFLCQA TAQPPVTGYR WAKGGSPVLG ARGPRLEVVA DASFLTEPVS CEVSNAVGSA
NRSTALDVLF GPILQAKPEP VSVDVGEDAS FSCAWRGNPL PRVTWTRRGG AQVLGSGATL
RLPSVGPEDA GDYVCRAEAG LSGLRGGAAE ARLTVNAPPV VTALHSAPAF LRGPARLQCL
VFASPAPDAV VWSWDEGFLE AGSQGRFLVE TFPAPESRGG LGPGLISVLH ISGTQESDFS
RSFNCSARNR LGEGGAQASL GRRDLLPTVR IVAGVAAATT TLLMVITGVA LCCWRHSKAS
ASFSEQKNLM RIPGSSDGSS SRGPEEEETG SREDRGPIVH TDHSDLVLEE EGTLETKDPT
NGYYKVRGVS VSLSLGEAPG GGLFLPPPSP LGPPGTPTFY DFNPHLGMVP PCRLYRARAG
YLTTPHPRAF TSYIKPTSFG PPDLAPGTPP FPYAAFPTPS HPRLQTHV*

Mutated AA sequence

MLRMRVPALL VLLFCFRGRA GPSPHFLQQP EDLVVLLGEE ARLPCALGAY WGLVQWTKSG
LALGGQRDLP GWSRYWISGN AANGQHDLHI RPVELEDEAS YECQATQAGL RSRPAQLHVL
VPPEAPQVLG GPSVSLVAGV PANLTCRSRG DARPTPELLW FRDGVLLDGA TFHQTLLKEG
TPGSVESTLT LTPFSHDDGA TFVCRARSQA LPTGRDTAIT LSLQYPPEVT LSASPHTVQE
GEKVIFLCQA TAQPPVTGYR WAKRGSPVLG ARGPRLEVVA DASFLTEPVS CEVSNAVGSA
NRSTALDVLF GPILQAKPEP VSVDVGEDAS FSCAWRGNPL PRVTWTRRGG AQVLGSGATL
RLPSVGPEDA GDYVCRAEAG LSGLRGGAAE ARLTVNAPPV VTALHSAPAF LRGPARLQCL
VFASPAPDAV VWSWDEGFLE AGSQGRFLVE TFPAPESRGG LGPGLISVLH ISGTQESDFS
RSFNCSARNR LGEGGAQASL GRRDLLPTVR IVAGVAAATT TLLMVITGVA LCCWRHSKAS
ASFSEQKNLM RIPGSSDGSS SRGPEEEETG SREDRGPIVH TDHSDLVLEE EGTLETKDPT
NGYYKVRGVS VSLSLGEAPG GGLFLPPPSP LGPPGTPTFY DFNPHLGMVP PCRLYRARAG
YLTTPHPRAF TSYIKPTSFG PPDLAPGTPP FPYAAFPTPS HPRLQTHV*

Position of stopcodon in wt / mu CDS

2127 / 2127

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

709 / 709

Position of stopcodon in wt / mu cDNA

2336 / 2336

Position of start ATG in wt / mu cDNA

210 / 210

Last intron/exon boundary

2000

Theoretical NMD boundary in CDS

1740

Length of CDS

2127

Coding sequence (CDS) position

790

cDNA position

999

gDNA position

4669

Chromosomal position

35860529

Speed

0.06 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:

19:35860529G>A_1_ENST00000592409

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 85|15 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:35860529G>A (GRCh38)

Gene symbol

KIRREL2

Gene constraints

LOEUF: 1.03, LOF (oe): 0.81, misssense (oe): 0.97, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000592409.5

Genbank transcript ID

NM_001363667 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.790G>A
g.4669G>A

AA changes

AAE:	G264R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs762476394
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	27	27

Protein conservation

Species	Match	AA	Alignment
Human		264	Q	P	P	V	T	G	Y	R	W	A	K	G	G	S	P	V	L	G	A	R	G	P	R	L
mutated	not conserved	264	Q	P	P	V	T	G	Y	R	W	A	K	R	G	S	P	V	L	G	A	R	G	P	R
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)	0.078	0.95
	5.213	1
(flanking)	5.213	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

11

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

ATTTCCTCAGGTGGGCAAAAGGGGGCTCTCCGGTGCTCGGG

Altered gDNA sequence snippet

ATTTCCTCAGGTGGGCAAAAAGGGGCTCTCCGGTGCTCGGG

Original cDNA sequence snippet

CAGGCTACAGGTGGGCAAAAGGGGGCTCTCCGGTGCTCGGG

Altered cDNA sequence snippet

CAGGCTACAGGTGGGCAAAAAGGGGCTCTCCGGTGCTCGGG

Wildtype AA sequence

MLRMRVPALL VLLFCFRGRA GPSPHFLQQP EDLVVLLGEE ARLPCALGAY WGLVQWTKSG
LALGGQRDLP GWSRYWISGN AANGQHDLHI RPVELEDEAS YECQATQAGL RSRPAQLHVL
VPPEAPQVLG GPSVSLVAGV PANLTCRSRG DARPTPELLW FRDGVLLDGA TFHQTLLKEG
TPGSVESTLT LTPFSHDDGA TFVCRARSQA LPTGRDTAIT LSLQYPPEVT LSASPHTVQE
GEKVIFLCQA TAQPPVTGYR WAKGGSPVLG ARGPRLEVVA DASFLTEPVS CEVSNAVGSA
NRSTALDVLF GPILQAKPEP VSVDVGEDAS FSCAWRGNPL PRVTWTRRGG AQVLGSGATL
RLPSVGPEDA GDYVCRAEAG LSGLRGGAAE ARLTVNAPPV VTALHSAPAF LRGPARLQCL
VFASPAPDAV VWSWDEGFLE AGSQGRFLVE TFPAPESRGG LGPGLISVLH ISGTQESDFS
RSFNCSARNR LGEGGAQASL GRRASASFSE QKNLMRIPGS SDGSSSRGPE EEETGSREDR
GPIVHTDHSD LVLEEEGTLE TKDPTNGYYK VRGVSVSLSL GEAPGGGLFL PPPSPLGPPG
TPTFYDFNPH LGMVPPCRLY RARAGYLTTP HPRAFTSYIK PTSFGPPDLA PGTPPFPYAA
FPTPSHPRLQ THV*

Mutated AA sequence

MLRMRVPALL VLLFCFRGRA GPSPHFLQQP EDLVVLLGEE ARLPCALGAY WGLVQWTKSG
LALGGQRDLP GWSRYWISGN AANGQHDLHI RPVELEDEAS YECQATQAGL RSRPAQLHVL
VPPEAPQVLG GPSVSLVAGV PANLTCRSRG DARPTPELLW FRDGVLLDGA TFHQTLLKEG
TPGSVESTLT LTPFSHDDGA TFVCRARSQA LPTGRDTAIT LSLQYPPEVT LSASPHTVQE
GEKVIFLCQA TAQPPVTGYR WAKRGSPVLG ARGPRLEVVA DASFLTEPVS CEVSNAVGSA
NRSTALDVLF GPILQAKPEP VSVDVGEDAS FSCAWRGNPL PRVTWTRRGG AQVLGSGATL
RLPSVGPEDA GDYVCRAEAG LSGLRGGAAE ARLTVNAPPV VTALHSAPAF LRGPARLQCL
VFASPAPDAV VWSWDEGFLE AGSQGRFLVE TFPAPESRGG LGPGLISVLH ISGTQESDFS
RSFNCSARNR LGEGGAQASL GRRASASFSE QKNLMRIPGS SDGSSSRGPE EEETGSREDR
GPIVHTDHSD LVLEEEGTLE TKDPTNGYYK VRGVSVSLSL GEAPGGGLFL PPPSPLGPPG
TPTFYDFNPH LGMVPPCRLY RARAGYLTTP HPRAFTSYIK PTSFGPPDLA PGTPPFPYAA
FPTPSHPRLQ THV*

Position of stopcodon in wt / mu CDS

2022 / 2022

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

674 / 674

Position of stopcodon in wt / mu cDNA

2555 / 2555

Position of start ATG in wt / mu cDNA

534 / 534

Last intron/exon boundary

2219

Theoretical NMD boundary in CDS

1635

Length of CDS

2022

Coding sequence (CDS) position

790

cDNA position

1323

gDNA position

4669

Chromosomal position

35860529

Speed

0.07 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:

19:35860529G>A_2_ENST00000347900

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 86|14 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:35860529G>A (GRCh38)

Gene symbol

KIRREL2

Gene constraints

LOEUF: 1.10, LOF (oe): 0.87, misssense (oe): 0.96, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000347900.10

Genbank transcript ID

NM_199179 (by similarity)

UniProt / AlphaMissense peptide

KIRR2_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.640G>A
g.4669G>A

AA changes

AAE:	G214R	?
Score:	125

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs762476394
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	27	27

Protein conservation

Species	Match	AA	Alignment
Human		214	Q	P	P	V	T	G	Y	R	W	A	K	G	G	S	P	V	L	G	A	R	G	P	R	L
mutated	not conserved	214	Q	P	P	V	T	G	Y	R	W	A	K	R	G	S	P	V	L	G	A	R	G	P	R
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

Start (aa)	End (aa)	Feature	Details
21	510	TOPO_DOM	Extracellular	lost
21	708	CHAIN		lost
123	222	DOMAIN	Ig-like C2-type	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.078	0.95
	5.213	1
(flanking)	5.213	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

11

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

19

Strand

1

Original gDNA sequence snippet

ATTTCCTCAGGTGGGCAAAAGGGGGCTCTCCGGTGCTCGGG

Altered gDNA sequence snippet

ATTTCCTCAGGTGGGCAAAAAGGGGCTCTCCGGTGCTCGGG

Original cDNA sequence snippet

CAGGCTACAGGTGGGCAAAAGGGGGCTCTCCGGTGCTCGGG

Altered cDNA sequence snippet

CAGGCTACAGGTGGGCAAAAAGGGGCTCTCCGGTGCTCGGG

Wildtype AA sequence

MLRMRVPALL VLLFCFRGRA GWSRYWISGN AANGQHDLHI RPVELEDEAS YECQATQAGL
RSRPAQLHVL VPPEAPQVLG GPSVSLVAGV PANLTCRSRG DARPTPELLW FRDGVLLDGA
TFHQTLLKEG TPGSVESTLT LTPFSHDDGA TFVCRARSQA LPTGRDTAIT LSLQYPPEVT
LSASPHTVQE GEKVIFLCQA TAQPPVTGYR WAKGGSPVLG ARGPRLEVVA DASFLTEPVS
CEVSNAVGSA NRSTALDVLF GPILQAKPEP VSVDVGEDAS FSCAWRGNPL PRVTWTRRGG
AQVLGSGATL RLPSVGPEDA GDYVCRAEAG LSGLRGGAAE ARLTVNAPPV VTALHSAPAF
LRGPARLQCL VFASPAPDAV VWSWDEGFLE AGSQGRFLVE TFPAPESRGG LGPGLISVLH
ISGTQESDFS RSFNCSARNR LGEGGAQASL GRRDLLPTVR IVAGVAAATT TLLMVITGVA
LCCWRHSKAS ASFSEQKNLM RIPGSSDGSS SRGPEEEETG SREDRGPIVH TDHSDLVLEE
EGTLETKDPT NGYYKVRGVS PPASPDSRVT SFQWKSPGIS NLP*

Mutated AA sequence

MLRMRVPALL VLLFCFRGRA GWSRYWISGN AANGQHDLHI RPVELEDEAS YECQATQAGL
RSRPAQLHVL VPPEAPQVLG GPSVSLVAGV PANLTCRSRG DARPTPELLW FRDGVLLDGA
TFHQTLLKEG TPGSVESTLT LTPFSHDDGA TFVCRARSQA LPTGRDTAIT LSLQYPPEVT
LSASPHTVQE GEKVIFLCQA TAQPPVTGYR WAKRGSPVLG ARGPRLEVVA DASFLTEPVS
CEVSNAVGSA NRSTALDVLF GPILQAKPEP VSVDVGEDAS FSCAWRGNPL PRVTWTRRGG
AQVLGSGATL RLPSVGPEDA GDYVCRAEAG LSGLRGGAAE ARLTVNAPPV VTALHSAPAF
LRGPARLQCL VFASPAPDAV VWSWDEGFLE AGSQGRFLVE TFPAPESRGG LGPGLISVLH
ISGTQESDFS RSFNCSARNR LGEGGAQASL GRRDLLPTVR IVAGVAAATT TLLMVITGVA
LCCWRHSKAS ASFSEQKNLM RIPGSSDGSS SRGPEEEETG SREDRGPIVH TDHSDLVLEE
EGTLETKDPT NGYYKVRGVS PPASPDSRVT SFQWKSPGIS NLP*

Position of stopcodon in wt / mu CDS

1752 / 1752

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

584 / 584

Position of stopcodon in wt / mu cDNA

1962 / 1962

Position of start ATG in wt / mu cDNA

211 / 211

Last intron/exon boundary

1890

Theoretical NMD boundary in CDS

1629

Length of CDS

1752

Coding sequence (CDS) position

640

cDNA position

850

gDNA position

4669

Chromosomal position

35860529

Speed

0.06 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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