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: ENST00000673881
Querying Taster for transcript #2: ENST00000674773
Querying Taster for transcript #3: ENST00000291825
Querying Taster for transcript #4: ENST00000324001
Querying Taster for transcript #5: ENST00000674005
MT speed 0.59 s - this script 3.020736 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000324001(MANE Select)	PRX	Deleterious	51\|49	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000673881	PRX	Deleterious	56\|44	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000674773	PRX	Deleterious	56\|44	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000674005	PRX	Deleterious	56\|44	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000291825	PRX	Deleterious	66\|34	3utr	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

19:40397772G>A_4_ENST00000324001

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 51|49 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:40397772G>A (GRCh38)

Gene symbol

PRX

Gene constraints

LOEUF: 1.32, LOF (oe): 0.97, misssense (oe): 0.96, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000324001.8

Genbank transcript ID

NM_181882 (exact from MANE)

UniProt / AlphaMissense peptide

PRAX_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.580C>T
g.17022C>T

AA changes

AAE:	R194C	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45521038
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	288	289

Protein conservation

Species	Match	AA	Alignment
Human		194	P	A	R	R	R	L	Q	L	P	R	L	R	V	R	E	V	A	E	E	A	Q	A	A	R
mutated	not conserved	194	P	A	R	R	R	L	Q	L	P	R	L	C	V	R	E	V	A	E	E	A	Q	A	A
Ptroglodytes	all identical	194	P	A	R	R	R	L	Q	L	P	R	L	R	V	R	E	V	A	E	E	A	Q	A	A
Mmulatta	all identical	194	P	A	R	R	R	L	Q	L	P	R	L	R	V	R	E	V	A	E	E	A	Q	A	A
Fcatus	all identical	317	P	A	R	R	R	L	Q	L	P	R	L	R	V	R	E	V	A	E	E	A	Q	A	A
Mmusculus	all identical	328						L	Q	L	P	R	L	R	V	R	E	V	A	E	E	A	Q	V	A
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	214	E	E	K	RL	K	I	K	F	P	R	L	R	V	K	D	A	A	S	G	V	K	V	T

Protein features

Start (aa)	End (aa)	Feature	Details
1	1461	CHAIN		lost
118	196	MOTIF	Nuclear localization signal	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.067	0.008
	1.056	0.01
(flanking)	-2.039	0

?

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

19

Strand

-1

Original gDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAA

Altered gDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGTGTGTACGAGAAGTGGCCGAA

Original cDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAA

Altered cDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGTGTGTACGAGAAGTGGCCGAA

Wildtype AA sequence

MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED SPAARSLSLQ
EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV PTGDLALRPG TVSGYEIKGP
RAKVAKLNIQ SLSPVKKKKM VPGALGVPAD LAPVDVEFSF PKFSRLRRGL KAEAVKGPVP
AAPARRRLQL PRLRVREVAE EAQAARLAAA APPPRKAKVE AEVAAGARFT APQVELVGPR
LPGAEVGVPQ VSAPKAAPSA EAAGGFALHL PTLGLGAPAP PAVEAPAVGI QVPQVELPAL
PSLPTLPTLP CLETREGAVS VVVPTLDVAA PTVGVDLALP GAEVEARGEA PEVALKMPRL
SFPRFGARAK EVAEAKVAKV SPEARVKGPR LRMPTFGLSL LEPRPAAPEV VESKLKLPTI
KMPSLGIGVS GPEVKVPKGP EVKLPKAPEV KLPKVPEAAL PEVRLPEVEL PKVSEMKLPK
VPEMAVPEVR LPEVELPKVS EMKLPKVPEM AVPEVRLPEV QLLKVSEMKL PKVPEMAVPE
VRLPEVQLPK VSEMKLPEVS EVAVPEVRLP EVQLPKVPEM KVPEMKLPKV PEMKLPEMKL
PEVQLPKVPE MAVPDVHLPE VQLPKVPEMK LPEMKLPEVK LPKVPEMAVP DVHLPEVQLP
KVPEMKLPKM PEMAVPEVRL PEVQLPKVSE MKLPKVPEMA VPDVHLPEVQ LPKVCEMKVP
DMKLPEIKLP KVPEMAVPDV HLPEVQLPKV SEIRLPEMQV PKVPDVHLPK APEVKLPRAP
EVQLKATKAE QAEGMEFGFK MPKMTMPKLG RAESPSRGKP GEAGAEVSGK LVTLPCLQPE
VDGEAHVGVP SLTLPSVELD LPGALGLQGQ VPAAKMGKGE RVEGPEVAAG VREVGFRVPS
VEIVTPQLPA VEIEEGRLEM IETKVKPSSK FSLPKFGLSG PKVAKAEAEG AGRATKLKVS
KFAISLPKAR VGAEAEAKGA GEAGLLPALD LSIPQLSLDA HLPSGKVEVA GADLKFKGPR
FALPKFGVRG RDTEAAELVP GVAELEGKGW GWDGRVKMPK LKMPSFGLAR GKEAEVQGDR
ASPGEKAEST AVQLKIPEVE LVTLGAQEEG RAEGAVAVSG MQLSGLKVST AGQVVTEGHD
AGLRMPPLGI SLPQVELTGF GEAGTPGQQA QSTVPSAEGT AGYRVQVPQV TLSLPGAQVA
GGELLVGEGV FKMPTVTVPQ LELDVGLSRE AQAGEAATGE GGLRLKLPTL GARARVGGEG
AEEQPPGAER TFCLSLPDVE LSPSGGNHAE YQVAEGEGEA GHKLKVRLPR FGLVRAKEGA
EEGEKAKSPK LRLPRVGFSQ SEMVTGEGSP SPEEEEEEEE EGSGEGASGR RGRVRVRLPR
VGLAAPSKAS RGQEGDAAPK SPVREKSPKF RFPRVSLSPK ARSGSGDQEE GGLRVRLPSV
GFSETGAPGP ARMEGAQAAA V*

Mutated AA sequence

MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED SPAARSLSLQ
EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV PTGDLALRPG TVSGYEIKGP
RAKVAKLNIQ SLSPVKKKKM VPGALGVPAD LAPVDVEFSF PKFSRLRRGL KAEAVKGPVP
AAPARRRLQL PRLCVREVAE EAQAARLAAA APPPRKAKVE AEVAAGARFT APQVELVGPR
LPGAEVGVPQ VSAPKAAPSA EAAGGFALHL PTLGLGAPAP PAVEAPAVGI QVPQVELPAL
PSLPTLPTLP CLETREGAVS VVVPTLDVAA PTVGVDLALP GAEVEARGEA PEVALKMPRL
SFPRFGARAK EVAEAKVAKV SPEARVKGPR LRMPTFGLSL LEPRPAAPEV VESKLKLPTI
KMPSLGIGVS GPEVKVPKGP EVKLPKAPEV KLPKVPEAAL PEVRLPEVEL PKVSEMKLPK
VPEMAVPEVR LPEVELPKVS EMKLPKVPEM AVPEVRLPEV QLLKVSEMKL PKVPEMAVPE
VRLPEVQLPK VSEMKLPEVS EVAVPEVRLP EVQLPKVPEM KVPEMKLPKV PEMKLPEMKL
PEVQLPKVPE MAVPDVHLPE VQLPKVPEMK LPEMKLPEVK LPKVPEMAVP DVHLPEVQLP
KVPEMKLPKM PEMAVPEVRL PEVQLPKVSE MKLPKVPEMA VPDVHLPEVQ LPKVCEMKVP
DMKLPEIKLP KVPEMAVPDV HLPEVQLPKV SEIRLPEMQV PKVPDVHLPK APEVKLPRAP
EVQLKATKAE QAEGMEFGFK MPKMTMPKLG RAESPSRGKP GEAGAEVSGK LVTLPCLQPE
VDGEAHVGVP SLTLPSVELD LPGALGLQGQ VPAAKMGKGE RVEGPEVAAG VREVGFRVPS
VEIVTPQLPA VEIEEGRLEM IETKVKPSSK FSLPKFGLSG PKVAKAEAEG AGRATKLKVS
KFAISLPKAR VGAEAEAKGA GEAGLLPALD LSIPQLSLDA HLPSGKVEVA GADLKFKGPR
FALPKFGVRG RDTEAAELVP GVAELEGKGW GWDGRVKMPK LKMPSFGLAR GKEAEVQGDR
ASPGEKAEST AVQLKIPEVE LVTLGAQEEG RAEGAVAVSG MQLSGLKVST AGQVVTEGHD
AGLRMPPLGI SLPQVELTGF GEAGTPGQQA QSTVPSAEGT AGYRVQVPQV TLSLPGAQVA
GGELLVGEGV FKMPTVTVPQ LELDVGLSRE AQAGEAATGE GGLRLKLPTL GARARVGGEG
AEEQPPGAER TFCLSLPDVE LSPSGGNHAE YQVAEGEGEA GHKLKVRLPR FGLVRAKEGA
EEGEKAKSPK LRLPRVGFSQ SEMVTGEGSP SPEEEEEEEE EGSGEGASGR RGRVRVRLPR
VGLAAPSKAS RGQEGDAAPK SPVREKSPKF RFPRVSLSPK ARSGSGDQEE GGLRVRLPSV
GFSETGAPGP ARMEGAQAAA V*

Position of stopcodon in wt / mu CDS

4386 / 4386

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

1462 / 1462

Position of stopcodon in wt / mu cDNA

4669 / 4669

Position of start ATG in wt / mu cDNA

284 / 284

Last intron/exon boundary

664

Theoretical NMD boundary in CDS

330

Length of CDS

4386

Coding sequence (CDS) position

580

cDNA position

863

gDNA position

17022

Chromosomal position

40397772

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:

19:40397772G>A_1_ENST00000673881

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 56|44 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:40397772G>A (GRCh38)

Gene symbol

PRX

Gene constraints

LOEUF: 1.62, LOF (oe): 1.10, misssense (oe): 0.95, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000673881.1

Genbank transcript ID

UniProt / AlphaMissense peptide

PRAX_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.163C>T
g.17022C>T

AA changes

AAE:	R55C	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45521038
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	288	289

Protein conservation

Species	Match	AA	Alignment
Human		55	P	A	R	R	R	L	Q	L	P	R	L	R	V	R	E	V	A	E	E	A	Q	A	A	R
mutated	not conserved	55	P	A	R	R	R	L	Q	L	P	R	L	C	V	R	E	V	A
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
1	1461	CHAIN		lost
16	99	DOMAIN	PDZ	lost
52	56	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.067	0.008
	1.056	0.01
(flanking)	-2.039	0

?

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

19

Strand

-1

Original gDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAA

Altered gDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGTGTGTACGAGAAGTGGCCGAA

Original cDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAA

Altered cDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGTGTGTACGAGAAGTGGCCGAA

Wildtype AA sequence

MVPGALGVPA DLAPVDVEFS FPKFSRLRRG LKAEAVKGPV PAAPARRRLQ LPRLRVREVA
EEAQAARLAA AAPPPRKAKV EAEVAAGARF TAPQVELVGP RLPGAEVGVP QVSAPKAAPS
AEAAGGFALH LPTLGLGAPA PPAVEAPAVG IQVPQVELPA LPSLPTLPTL PCLETREGAV
SVVVPTLDVA APTVGVDLAL PGAEVEARGE APEVALKMPR LSFPRFGARA KEVAEAKVAK
VSPEARVKGP RLRMPTFGLS LLEPRPAAPE VVESKLKLPT IKMPSLGIGV SGPEVKVPKG
PEVKLPKAPE VKLPKVPEAA LPEVRLPEVE LPKVSEMKLP KVPEMAVPEV RLPEVELPKV
SEMKLPKVPE MAVPEVRLPE VQLLKVSEMK LPKVPEMAVP EVRLPEVQLP KVSEMKLPEV
SEVAVPEVRL PEVQLPKVPE MKVPEMKLPK VPEMKLPEMK LPEVQLPKVP EMAVPDVHLP
EVQLPKVPEM KLPEMKLPEV KLPKVPEMAV PDVHLPEVQL PKVPEMKLPK MPEMAVPEVR
LPEVQLPKVS EMKLPKVPEM AVPDVHLPEV QLPKVCEMKV PDMKLPEIKL PKVPEMAVPD
VHLPEVQLPK VSEIRLPEMQ VPKVPDVHLP KAPEVKLPRA PEVQLKATKA EQAEGMEFGF
KMPKMTMPKL GRAESPSRGK PGEAGAEVSG KLVTLPCLQP EVDGEAHVGV PSLTLPSVEL
DLPGALGLQG QVPAAKMGKG ERVEGPEVAA GVREVGFRVP SVEIVTPQLP AVEIEEGRLE
MIETKVKPSS KFSLPKFGLS GPKVAKAEAE GAGRATKLKV SKFAISLPKA RVGAEAEAKG
AGEAGLLPAL DLSIPQLSLD AHLPSGKVEV AGADLKFKGP RFALPKFGVR GRDTEAAELV
PGVAELEGKG WGWDGRVKMP KLKMPSFGLA RGKEAEVQGD RASPGEKAES TAVQLKIPEV
ELVTLGAQEE GRAEGAVAVS GMQLSGLKVS TAGQVVTEGH DAGLRMPPLG ISLPQVELTG
FGEAGTPGQQ AQSTVPSAEG TAGYRVQVPQ VTLSLPGAQV AGGELLVGEG VFKMPTVTVP
QLELDVGLSR EAQAGEAATG EGGLRLKLPT LGARARVGGE GAEEQPPGAE RTFCLSLPDV
ELSPSGGNHA EYQVAEGEGE AGHKLKVRLP RFGLVRAKEG AEEGEKAKSP KLRLPRVGFS
QSEMVTGEGS PSPEEEEEEE EEGSGEGASG RRGRVRVRLP RVGLAAPSKA SRGQEGDAAP
KSPVREKSPK FRFPRVSLSP KARSGSGDQE EGGLRVRLPS VGFSETGAPG PARMEGAQAA
AV*

Mutated AA sequence

MVPGALGVPA DLAPVDVEFS FPKFSRLRRG LKAEAVKGPV PAAPARRRLQ LPRLCVREVA
EEAQAARLAA AAPPPRKAKV EAEVAAGARF TAPQVELVGP RLPGAEVGVP QVSAPKAAPS
AEAAGGFALH LPTLGLGAPA PPAVEAPAVG IQVPQVELPA LPSLPTLPTL PCLETREGAV
SVVVPTLDVA APTVGVDLAL PGAEVEARGE APEVALKMPR LSFPRFGARA KEVAEAKVAK
VSPEARVKGP RLRMPTFGLS LLEPRPAAPE VVESKLKLPT IKMPSLGIGV SGPEVKVPKG
PEVKLPKAPE VKLPKVPEAA LPEVRLPEVE LPKVSEMKLP KVPEMAVPEV RLPEVELPKV
SEMKLPKVPE MAVPEVRLPE VQLLKVSEMK LPKVPEMAVP EVRLPEVQLP KVSEMKLPEV
SEVAVPEVRL PEVQLPKVPE MKVPEMKLPK VPEMKLPEMK LPEVQLPKVP EMAVPDVHLP
EVQLPKVPEM KLPEMKLPEV KLPKVPEMAV PDVHLPEVQL PKVPEMKLPK MPEMAVPEVR
LPEVQLPKVS EMKLPKVPEM AVPDVHLPEV QLPKVCEMKV PDMKLPEIKL PKVPEMAVPD
VHLPEVQLPK VSEIRLPEMQ VPKVPDVHLP KAPEVKLPRA PEVQLKATKA EQAEGMEFGF
KMPKMTMPKL GRAESPSRGK PGEAGAEVSG KLVTLPCLQP EVDGEAHVGV PSLTLPSVEL
DLPGALGLQG QVPAAKMGKG ERVEGPEVAA GVREVGFRVP SVEIVTPQLP AVEIEEGRLE
MIETKVKPSS KFSLPKFGLS GPKVAKAEAE GAGRATKLKV SKFAISLPKA RVGAEAEAKG
AGEAGLLPAL DLSIPQLSLD AHLPSGKVEV AGADLKFKGP RFALPKFGVR GRDTEAAELV
PGVAELEGKG WGWDGRVKMP KLKMPSFGLA RGKEAEVQGD RASPGEKAES TAVQLKIPEV
ELVTLGAQEE GRAEGAVAVS GMQLSGLKVS TAGQVVTEGH DAGLRMPPLG ISLPQVELTG
FGEAGTPGQQ AQSTVPSAEG TAGYRVQVPQ VTLSLPGAQV AGGELLVGEG VFKMPTVTVP
QLELDVGLSR EAQAGEAATG EGGLRLKLPT LGARARVGGE GAEEQPPGAE RTFCLSLPDV
ELSPSGGNHA EYQVAEGEGE AGHKLKVRLP RFGLVRAKEG AEEGEKAKSP KLRLPRVGFS
QSEMVTGEGS PSPEEEEEEE EEGSGEGASG RRGRVRVRLP RVGLAAPSKA SRGQEGDAAP
KSPVREKSPK FRFPRVSLSP KARSGSGDQE EGGLRVRLPS VGFSETGAPG PARMEGAQAA
AV*

Position of stopcodon in wt / mu CDS

3969 / 3969

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

1323 / 1323

Position of stopcodon in wt / mu cDNA

4785 / 4785

Position of start ATG in wt / mu cDNA

817 / 817

Last intron/exon boundary

780

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

3969

Coding sequence (CDS) position

163

cDNA position

979

gDNA position

17022

Chromosomal position

40397772

Speed

0.12 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:

19:40397772G>A_2_ENST00000674773

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 56|44 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:40397772G>A (GRCh38)

Gene symbol

PRX

Gene constraints

LOEUF: 1.62, LOF (oe): 1.10, misssense (oe): 0.95, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000674773.1

Genbank transcript ID

UniProt / AlphaMissense peptide

PRAX_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.163C>T
g.17022C>T

AA changes

AAE:	R55C	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45521038
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	288	289

Protein conservation

Species	Match	AA	Alignment
Human		55	P	A	R	R	R	L	Q	L	P	R	L	R	V	R	E	V	A	E	E	A	Q	A	A	R
mutated	not conserved	55	P	A	R	R	R	L	Q	L	P	R	L	C	V	R	E	V	A
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
1	1461	CHAIN		lost
16	99	DOMAIN	PDZ	lost
52	56	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.067	0.008
	1.056	0.01
(flanking)	-2.039	0

?

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

19

Strand

-1

Original gDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAA

Altered gDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGTGTGTACGAGAAGTGGCCGAA

Original cDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAA

Altered cDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGTGTGTACGAGAAGTGGCCGAA

Wildtype AA sequence

MVPGALGVPA DLAPVDVEFS FPKFSRLRRG LKAEAVKGPV PAAPARRRLQ LPRLRVREVA
EEAQAARLAA AAPPPRKAKV EAEVAAGARF TAPQVELVGP RLPGAEVGVP QVSAPKAAPS
AEAAGGFALH LPTLGLGAPA PPAVEAPAVG IQVPQVELPA LPSLPTLPTL PCLETREGAV
SVVVPTLDVA APTVGVDLAL PGAEVEARGE APEVALKMPR LSFPRFGARA KEVAEAKVAK
VSPEARVKGP RLRMPTFGLS LLEPRPAAPE VVESKLKLPT IKMPSLGIGV SGPEVKVPKG
PEVKLPKAPE VKLPKVPEAA LPEVRLPEVE LPKVSEMKLP KVPEMAVPEV RLPEVELPKV
SEMKLPKVPE MAVPEVRLPE VQLLKVSEMK LPKVPEMAVP EVRLPEVQLP KVSEMKLPEV
SEVAVPEVRL PEVQLPKVPE MKVPEMKLPK VPEMKLPEMK LPEVQLPKVP EMAVPDVHLP
EVQLPKVPEM KLPEMKLPEV KLPKVPEMAV PDVHLPEVQL PKVPEMKLPK MPEMAVPEVR
LPEVQLPKVS EMKLPKVPEM AVPDVHLPEV QLPKVCEMKV PDMKLPEIKL PKVPEMAVPD
VHLPEVQLPK VSEIRLPEMQ VPKVPDVHLP KAPEVKLPRA PEVQLKATKA EQAEGMEFGF
KMPKMTMPKL GRAESPSRGK PGEAGAEVSG KLVTLPCLQP EVDGEAHVGV PSLTLPSVEL
DLPGALGLQG QVPAAKMGKG ERVEGPEVAA GVREVGFRVP SVEIVTPQLP AVEIEEGRLE
MIETKVKPSS KFSLPKFGLS GPKVAKAEAE GAGRATKLKV SKFAISLPKA RVGAEAEAKG
AGEAGLLPAL DLSIPQLSLD AHLPSGKVEV AGADLKFKGP RFALPKFGVR GRDTEAAELV
PGVAELEGKG WGWDGRVKMP KLKMPSFGLA RGKEAEVQGD RASPGEKAES TAVQLKIPEV
ELVTLGAQEE GRAEGAVAVS GMQLSGLKVS TAGQVVTEGH DAGLRMPPLG ISLPQVELTG
FGEAGTPGQQ AQSTVPSAEG TAGYRVQVPQ VTLSLPGAQV AGGELLVGEG VFKMPTVTVP
QLELDVGLSR EAQAGEAATG EGGLRLKLPT LGARARVGGE GAEEQPPGAE RTFCLSLPDV
ELSPSGGNHA EYQVAEGEGE AGHKLKVRLP RFGLVRAKEG AEEGEKAKSP KLRLPRVGFS
QSEMVTGEGS PSPEEEEEEE EEGSGEGASG RRGRVRVRLP RVGLAAPSKA SRGQEGDAAP
KSPVREKSPK FRFPRVSLSP KARSGSGDQE EGGLRVRLPS VGFSETGAPG PARMEGAQAA
AV*

Mutated AA sequence

MVPGALGVPA DLAPVDVEFS FPKFSRLRRG LKAEAVKGPV PAAPARRRLQ LPRLCVREVA
EEAQAARLAA AAPPPRKAKV EAEVAAGARF TAPQVELVGP RLPGAEVGVP QVSAPKAAPS
AEAAGGFALH LPTLGLGAPA PPAVEAPAVG IQVPQVELPA LPSLPTLPTL PCLETREGAV
SVVVPTLDVA APTVGVDLAL PGAEVEARGE APEVALKMPR LSFPRFGARA KEVAEAKVAK
VSPEARVKGP RLRMPTFGLS LLEPRPAAPE VVESKLKLPT IKMPSLGIGV SGPEVKVPKG
PEVKLPKAPE VKLPKVPEAA LPEVRLPEVE LPKVSEMKLP KVPEMAVPEV RLPEVELPKV
SEMKLPKVPE MAVPEVRLPE VQLLKVSEMK LPKVPEMAVP EVRLPEVQLP KVSEMKLPEV
SEVAVPEVRL PEVQLPKVPE MKVPEMKLPK VPEMKLPEMK LPEVQLPKVP EMAVPDVHLP
EVQLPKVPEM KLPEMKLPEV KLPKVPEMAV PDVHLPEVQL PKVPEMKLPK MPEMAVPEVR
LPEVQLPKVS EMKLPKVPEM AVPDVHLPEV QLPKVCEMKV PDMKLPEIKL PKVPEMAVPD
VHLPEVQLPK VSEIRLPEMQ VPKVPDVHLP KAPEVKLPRA PEVQLKATKA EQAEGMEFGF
KMPKMTMPKL GRAESPSRGK PGEAGAEVSG KLVTLPCLQP EVDGEAHVGV PSLTLPSVEL
DLPGALGLQG QVPAAKMGKG ERVEGPEVAA GVREVGFRVP SVEIVTPQLP AVEIEEGRLE
MIETKVKPSS KFSLPKFGLS GPKVAKAEAE GAGRATKLKV SKFAISLPKA RVGAEAEAKG
AGEAGLLPAL DLSIPQLSLD AHLPSGKVEV AGADLKFKGP RFALPKFGVR GRDTEAAELV
PGVAELEGKG WGWDGRVKMP KLKMPSFGLA RGKEAEVQGD RASPGEKAES TAVQLKIPEV
ELVTLGAQEE GRAEGAVAVS GMQLSGLKVS TAGQVVTEGH DAGLRMPPLG ISLPQVELTG
FGEAGTPGQQ AQSTVPSAEG TAGYRVQVPQ VTLSLPGAQV AGGELLVGEG VFKMPTVTVP
QLELDVGLSR EAQAGEAATG EGGLRLKLPT LGARARVGGE GAEEQPPGAE RTFCLSLPDV
ELSPSGGNHA EYQVAEGEGE AGHKLKVRLP RFGLVRAKEG AEEGEKAKSP KLRLPRVGFS
QSEMVTGEGS PSPEEEEEEE EEGSGEGASG RRGRVRVRLP RVGLAAPSKA SRGQEGDAAP
KSPVREKSPK FRFPRVSLSP KARSGSGDQE EGGLRVRLPS VGFSETGAPG PARMEGAQAA
AV*

Position of stopcodon in wt / mu CDS

3969 / 3969

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

1323 / 1323

Position of stopcodon in wt / mu cDNA

4235 / 4235

Position of start ATG in wt / mu cDNA

267 / 267

Last intron/exon boundary

230

Theoretical NMD boundary in CDS

cannot be calculated, distance between start ATG and last intron/exon boundary is too small

Length of CDS

3969

Coding sequence (CDS) position

163

cDNA position

429

gDNA position

17022

Chromosomal position

40397772

Speed

0.11 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:

19:40397772G>A_5_ENST00000674005

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 56|44 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:40397772G>A (GRCh38)

Gene symbol

PRX

Gene constraints

LOEUF: 1.31, LOF (oe): 0.96, misssense (oe): 0.96, synonymous (oe): 0.95 ? (gnomAD)

Ensembl transcript ID

ENST00000674005.2

Genbank transcript ID

NM_001411127 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.865C>T
g.17022C>T

AA changes

AAE:	R289C	?
Score:	180

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45521038
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	288	289

Protein conservation

Species	Match	AA	Alignment
Human		289	P	A	R	R	R	L	Q	L	P	R	L	R	V	R	E	V	A	E	E	A	Q	A	A	R
mutated	not conserved	289	P	A	R	R	R	L	Q	L	P	R	L	C	V	R	E	V	A	E	E	A	Q	A	A
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)	1.067	0.008
	1.056	0.01
(flanking)	-2.039	0

?

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

19

Strand

-1

Original gDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAA

Altered gDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGTGTGTACGAGAAGTGGCCGAA

Original cDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAA

Altered cDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGTGTGTACGAGAAGTGGCCGAA

Wildtype AA sequence

MWGYLCSLCR PPGSERRTQE AQGAGGDPQA ARTPRKGVSP ADSCAAPRAG LLLGGSACTQ
AAAQRQLLHA ELKLVLQQKG ERTQEPGVQV PPSNAMEARS RSAEELRRAE LVEIIVETEA
QTGVSGINVA GGGKEGIFVR ELREDSPAAR SLSLQEGDQL LSARVFFENF KYEDALRLLQ
CAEPYKVSFC LKRTVPTGDL ALRPGTVSGY EIKGPRAKVA KLNIQSLSPV KKKKMVPGAL
GVPADLAPVD VEFSFPKFSR LRRGLKAEAV KGPVPAAPAR RRLQLPRLRV REVAEEAQAA
RLAAAAPPPR KAKVEAEVAA GARFTAPQVE LVGPRLPGAE VGVPQVSAPK AAPSAEAAGG
FALHLPTLGL GAPAPPAVEA PAVGIQVPQV ELPALPSLPT LPTLPCLETR EGAVSVVVPT
LDVAAPTVGV DLALPGAEVE ARGEAPEVAL KMPRLSFPRF GARAKEVAEA KVAKVSPEAR
VKGPRLRMPT FGLSLLEPRP AAPEVVESKL KLPTIKMPSL GIGVSGPEVK VPKGPEVKLP
KAPEVKLPKV PEAALPEVRL PEVELPKVSE MKLPKVPEMA VPEVRLPEVE LPKVSEMKLP
KVPEMAVPEV RLPEVQLLKV SEMKLPKVPE MAVPEVRLPE VQLPKVSEMK LPEVSEVAVP
EVRLPEVQLP KVPEMKVPEM KLPKVPEMKL PEMKLPEVQL PKVPEMAVPD VHLPEVQLPK
VPEMKLPEMK LPEVKLPKVP EMAVPDVHLP EVQLPKVPEM KLPKMPEMAV PEVRLPEVQL
PKVSEMKLPK VPEMAVPDVH LPEVQLPKVC EMKVPDMKLP EIKLPKVPEM AVPDVHLPEV
QLPKVSEIRL PEMQVPKVPD VHLPKAPEVK LPRAPEVQLK ATKAEQAEGM EFGFKMPKMT
MPKLGRAESP SRGKPGEAGA EVSGKLVTLP CLQPEVDGEA HVGVPSLTLP SVELDLPGAL
GLQGQVPAAK MGKGERVEGP EVAAGVREVG FRVPSVEIVT PQLPAVEIEE GRLEMIETKV
KPSSKFSLPK FGLSGPKVAK AEAEGAGRAT KLKVSKFAIS LPKARVGAEA EAKGAGEAGL
LPALDLSIPQ LSLDAHLPSG KVEVAGADLK FKGPRFALPK FGVRGRDTEA AELVPGVAEL
EGKGWGWDGR VKMPKLKMPS FGLARGKEAE VQGDRASPGE KAESTAVQLK IPEVELVTLG
AQEEGRAEGA VAVSGMQLSG LKVSTAGQVV TEGHDAGLRM PPLGISLPQV ELTGFGEAGT
PGQQAQSTVP SAEGTAGYRV QVPQVTLSLP GAQVAGGELL VGEGVFKMPT VTVPQLELDV
GLSREAQAGE AATGEGGLRL KLPTLGARAR VGGEGAEEQP PGAERTFCLS LPDVELSPSG
GNHAEYQVAE GEGEAGHKLK VRLPRFGLVR AKEGAEEGEK AKSPKLRLPR VGFSQSEMVT
GEGSPSPEEE EEEEEEGSGE GASGRRGRVR VRLPRVGLAA PSKASRGQEG DAAPKSPVRE
KSPKFRFPRV SLSPKARSGS GDQEEGGLRV RLPSVGFSET GAPGPARMEG AQAAAV*

Mutated AA sequence

MWGYLCSLCR PPGSERRTQE AQGAGGDPQA ARTPRKGVSP ADSCAAPRAG LLLGGSACTQ
AAAQRQLLHA ELKLVLQQKG ERTQEPGVQV PPSNAMEARS RSAEELRRAE LVEIIVETEA
QTGVSGINVA GGGKEGIFVR ELREDSPAAR SLSLQEGDQL LSARVFFENF KYEDALRLLQ
CAEPYKVSFC LKRTVPTGDL ALRPGTVSGY EIKGPRAKVA KLNIQSLSPV KKKKMVPGAL
GVPADLAPVD VEFSFPKFSR LRRGLKAEAV KGPVPAAPAR RRLQLPRLCV REVAEEAQAA
RLAAAAPPPR KAKVEAEVAA GARFTAPQVE LVGPRLPGAE VGVPQVSAPK AAPSAEAAGG
FALHLPTLGL GAPAPPAVEA PAVGIQVPQV ELPALPSLPT LPTLPCLETR EGAVSVVVPT
LDVAAPTVGV DLALPGAEVE ARGEAPEVAL KMPRLSFPRF GARAKEVAEA KVAKVSPEAR
VKGPRLRMPT FGLSLLEPRP AAPEVVESKL KLPTIKMPSL GIGVSGPEVK VPKGPEVKLP
KAPEVKLPKV PEAALPEVRL PEVELPKVSE MKLPKVPEMA VPEVRLPEVE LPKVSEMKLP
KVPEMAVPEV RLPEVQLLKV SEMKLPKVPE MAVPEVRLPE VQLPKVSEMK LPEVSEVAVP
EVRLPEVQLP KVPEMKVPEM KLPKVPEMKL PEMKLPEVQL PKVPEMAVPD VHLPEVQLPK
VPEMKLPEMK LPEVKLPKVP EMAVPDVHLP EVQLPKVPEM KLPKMPEMAV PEVRLPEVQL
PKVSEMKLPK VPEMAVPDVH LPEVQLPKVC EMKVPDMKLP EIKLPKVPEM AVPDVHLPEV
QLPKVSEIRL PEMQVPKVPD VHLPKAPEVK LPRAPEVQLK ATKAEQAEGM EFGFKMPKMT
MPKLGRAESP SRGKPGEAGA EVSGKLVTLP CLQPEVDGEA HVGVPSLTLP SVELDLPGAL
GLQGQVPAAK MGKGERVEGP EVAAGVREVG FRVPSVEIVT PQLPAVEIEE GRLEMIETKV
KPSSKFSLPK FGLSGPKVAK AEAEGAGRAT KLKVSKFAIS LPKARVGAEA EAKGAGEAGL
LPALDLSIPQ LSLDAHLPSG KVEVAGADLK FKGPRFALPK FGVRGRDTEA AELVPGVAEL
EGKGWGWDGR VKMPKLKMPS FGLARGKEAE VQGDRASPGE KAESTAVQLK IPEVELVTLG
AQEEGRAEGA VAVSGMQLSG LKVSTAGQVV TEGHDAGLRM PPLGISLPQV ELTGFGEAGT
PGQQAQSTVP SAEGTAGYRV QVPQVTLSLP GAQVAGGELL VGEGVFKMPT VTVPQLELDV
GLSREAQAGE AATGEGGLRL KLPTLGARAR VGGEGAEEQP PGAERTFCLS LPDVELSPSG
GNHAEYQVAE GEGEAGHKLK VRLPRFGLVR AKEGAEEGEK AKSPKLRLPR VGFSQSEMVT
GEGSPSPEEE EEEEEEGSGE GASGRRGRVR VRLPRVGLAA PSKASRGQEG DAAPKSPVRE
KSPKFRFPRV SLSPKARSGS GDQEEGGLRV RLPSVGFSET GAPGPARMEG AQAAAV*

Position of stopcodon in wt / mu CDS

4671 / 4671

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

1557 / 1557

Position of stopcodon in wt / mu cDNA

4722 / 4722

Position of start ATG in wt / mu cDNA

52 / 52

Last intron/exon boundary

717

Theoretical NMD boundary in CDS

615

Length of CDS

4671

Coding sequence (CDS) position

865

cDNA position

916

gDNA position

17022

Chromosomal position

40397772

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

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MutationT@ster 2025

Variant:

19:40397772G>A_3_ENST00000291825

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Prediction:

DeleteriousPermalink

Summary:

Model: 3utr
Tree vote: 66|34 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr19:40397772G>A (GRCh38)

Gene symbol

PRX

Gene constraints

LOEUF: 1.67, LOF (oe): 1.07, misssense (oe): 1.04, synonymous (oe): 1.00 ? (gnomAD)

Ensembl transcript ID

ENST00000291825.11

Genbank transcript ID

NM_020956 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

3'UTR

DNA changes

cDNA.1498C>T
g.17022C>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

dbSNP ID	rs45521038
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	288	289

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.067	0.008
	1.056	0.01
(flanking)	-2.039	0

?

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

polyA signal ok

AA sequence altered

N/A

Chromosome

19

Strand

-1

Original gDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAA

Altered gDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGTGTGTACGAGAAGTGGCCGAA

Original cDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGCGTGTACGAGAAGTGGCCGAA

Altered cDNA sequence snippet

GCCTCCAGCTGCCTCGGCTGTGTGTACGAGAAGTGGCCGAA

Wildtype AA sequence

MEARSRSAEE LRRAELVEII VETEAQTGVS GINVAGGGKE GIFVRELRED SPAARSLSLQ
EGDQLLSARV FFENFKYEDA LRLLQCAEPY KVSFCLKRTV PTGDLALRPG TVSGYEIKGP
RAKVAKLVRV LSPAPALDCP SDPVSAP*

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

270 / 270

Last intron/exon boundary

453

Theoretical NMD boundary in CDS

133

Length of CDS

444

Coding sequence (CDS) position

N/A

cDNA position

1498

gDNA position

17022

Chromosomal position

40397772

Speed

0.10 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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