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: ENST00000493429
Querying Taster for transcript #2: ENST00000467291
Querying Taster for transcript #3: ENST00000360937
Querying Taster for transcript #4: ENST00000416793
MT speed 0.41 s - this script 2.856273 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
ENST00000493429	AOC1	Deleterious	78\|22	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000467291	AOC1	Deleterious	78\|22	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000360937(MANE Select)	AOC1	Deleterious	78\|22	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000416793	AOC1	Deleterious	79\|21	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

7:150857907G>A_1_ENST00000493429

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 78|22 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:150857907G>A (GRCh38)

Gene symbol

AOC1

Gene constraints

LOEUF: 1.25, LOF (oe): 1.01, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000493429.5

Genbank transcript ID

UniProt / AlphaMissense peptide

AOC1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1437G>A
g.33281G>A

AA changes

AAE:	M479I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45558339
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	212	213

Protein conservation

Species	Match	AA	Alignment
Human		479	I	F	Y	P	N	G	V	M	E	A	K	M	H	A	T	G	Y	V	H	A	T	F	Y	T
mutated	all conserved	479	I	F	Y	P	N	G	V	M	E	A	K	I	H	A	T	G	Y	V	H	A	T	F	Y
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
20	751	CHAIN		lost
475	483	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.907	1
	0.436	0.997
(flanking)	4.391	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

GGGGTGATGGAGGCCAAGATGCATGCCACTGGCTACGTCCA

Altered gDNA sequence snippet

GGGGTGATGGAGGCCAAGATACATGCCACTGGCTACGTCCA

Original cDNA sequence snippet

GGGGTGATGGAGGCCAAGATGCATGCCACTGGCTACGTCCA

Altered cDNA sequence snippet

GGGGTGATGGAGGCCAAGATACATGCCACTGGCTACGTCCA

Wildtype AA sequence

MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*

Mutated AA sequence

MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKIH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*

Position of stopcodon in wt / mu CDS

2256 / 2256

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

752 / 752

Position of stopcodon in wt / mu cDNA

2840 / 2840

Position of start ATG in wt / mu cDNA

585 / 585

Last intron/exon boundary

2573

Theoretical NMD boundary in CDS

1938

Length of CDS

2256

Coding sequence (CDS) position

1437

cDNA position

2021

gDNA position

33281

Chromosomal position

150857907

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:

7:150857907G>A_2_ENST00000467291

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 78|22 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:150857907G>A (GRCh38)

Gene symbol

AOC1

Gene constraints

LOEUF: 1.25, LOF (oe): 1.01, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000467291.5

Genbank transcript ID

UniProt / AlphaMissense peptide

AOC1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1437G>A
g.33281G>A

AA changes

AAE:	M479I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45558339
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	212	213

Protein conservation

Species	Match	AA	Alignment
Human		479	I	F	Y	P	N	G	V	M	E	A	K	M	H	A	T	G	Y	V	H	A	T	F	Y	T
mutated	all conserved	479	I	F	Y	P	N	G	V	M	E	A	K	I	H	A	T	G	Y	V	H	A	T	F	Y
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
20	751	CHAIN		lost
475	483	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.907	1
	0.436	0.997
(flanking)	4.391	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

GGGGTGATGGAGGCCAAGATGCATGCCACTGGCTACGTCCA

Altered gDNA sequence snippet

GGGGTGATGGAGGCCAAGATACATGCCACTGGCTACGTCCA

Original cDNA sequence snippet

GGGGTGATGGAGGCCAAGATGCATGCCACTGGCTACGTCCA

Altered cDNA sequence snippet

GGGGTGATGGAGGCCAAGATACATGCCACTGGCTACGTCCA

Wildtype AA sequence

MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*

Mutated AA sequence

MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKIH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*

Position of stopcodon in wt / mu CDS

2256 / 2256

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

752 / 752

Position of stopcodon in wt / mu cDNA

2562 / 2562

Position of start ATG in wt / mu cDNA

307 / 307

Last intron/exon boundary

2295

Theoretical NMD boundary in CDS

1938

Length of CDS

2256

Coding sequence (CDS) position

1437

cDNA position

1743

gDNA position

33281

Chromosomal position

150857907

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

Back to summary table

MutationT@ster 2025

Variant:

7:150857907G>A_3_ENST00000360937

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 78|22 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:150857907G>A (GRCh38)

Gene symbol

AOC1

Gene constraints

LOEUF: 1.25, LOF (oe): 1.01, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000360937.9

Genbank transcript ID

NM_001091 (exact from MANE)

UniProt / AlphaMissense peptide

AOC1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1437G>A
g.33281G>A

AA changes

AAE:	M479I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45558339
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	212	213

Protein conservation

Species	Match	AA	Alignment
Human		479	I	F	Y	P	N	G	V	M	E	A	K	M	H	A	T	G	Y	V	H	A	T	F	Y	T
mutated	all conserved	479	I	F	Y	P	N	G	V	M	E	A	K	I	H	A	T	G	Y	V	H	A	T	F	Y
Ptroglodytes	all identical	483	I	F	Y	P	N	G	V	M	E	A	K	M	H	A	T	G	Y	V	H	A	T	F	Y
Mmulatta	all identical	483	I	F	Y	P	N	G	V	M	E	A	K	M	H	A
Fcatus	all identical	484	I	F	Y	P	N	G	V	M	E	A	K	M	H	A
Mmusculus	all identical	2015											K	M	H	A	T	G	Y	V	H	A	T	F	Y
Ggallus	all conserved	471	L	L	Y	P	N	G	V	L	E	A	K	V	H	A
Trubripes	all identical	468	L	F	Y	Q	N	G	V	M	E	V	K	M	S	A	T	G	Y	I	H	S	T	F	F
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all conserved	496	I	F	Y	Q	N	G	V	M	E	V	K	V	H	P	T	G	Y	I	Q

Protein features

Start (aa)	End (aa)	Feature	Details
20	751	CHAIN		lost
475	483	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.907	1
	0.436	0.997
(flanking)	4.391	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

GGGGTGATGGAGGCCAAGATGCATGCCACTGGCTACGTCCA

Altered gDNA sequence snippet

GGGGTGATGGAGGCCAAGATACATGCCACTGGCTACGTCCA

Original cDNA sequence snippet

GGGGTGATGGAGGCCAAGATGCATGCCACTGGCTACGTCCA

Altered cDNA sequence snippet

GGGGTGATGGAGGCCAAGATACATGCCACTGGCTACGTCCA

Wildtype AA sequence

MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*

Mutated AA sequence

MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKIH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWARY PLAVTKYRES ELCSSSIYHQ NDPWHPPVVF EQFLHNNENI
ENEDLVAWVT VGFLHIPHSE DIPNTATPGN SVGFLLRPFN FFPEDPSLAS RDTVIVWPRD
NGPNYVQRWI PEDRDCSMPP PFSYNGTYRP V*

Position of stopcodon in wt / mu CDS

2256 / 2256

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

752 / 752

Position of stopcodon in wt / mu cDNA

2314 / 2314

Position of start ATG in wt / mu cDNA

59 / 59

Last intron/exon boundary

2047

Theoretical NMD boundary in CDS

1938

Length of CDS

2256

Coding sequence (CDS) position

1437

cDNA position

1495

gDNA position

33281

Chromosomal position

150857907

Speed

0.14 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:

7:150857907G>A_4_ENST00000416793

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

Chr7:150857907G>A (GRCh38)

Gene symbol

AOC1

Gene constraints

LOEUF: 1.24, LOF (oe): 0.99, misssense (oe): 0.90, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000416793.6

Genbank transcript ID

NM_001272072 (by similarity)

UniProt / AlphaMissense peptide

AOC1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1437G>A
g.33281G>A

AA changes

AAE:	M479I	?
Score:	10

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs45558339
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	1	212	213

Protein conservation

Species	Match	AA	Alignment
Human		479	I	F	Y	P	N	G	V	M	E	A	K	M	H	A	T	G	Y	V	H	A	T	F	Y	T
mutated	all conserved	479	I	F	Y	P	N	G	V	M	E	A	K	I	H	A	T	G	Y	V	H	A	T	F	Y
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
20	751	CHAIN		lost
475	483	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.907	1
	0.436	0.997
(flanking)	4.391	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

GGGGTGATGGAGGCCAAGATGCATGCCACTGGCTACGTCCA

Altered gDNA sequence snippet

GGGGTGATGGAGGCCAAGATACATGCCACTGGCTACGTCCA

Original cDNA sequence snippet

GGGGTGATGGAGGCCAAGATGCATGCCACTGGCTACGTCCA

Altered cDNA sequence snippet

GGGGTGATGGAGGCCAAGATACATGCCACTGGCTACGTCCA

Wildtype AA sequence

MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKMH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWART EGGQPRALSQ AASPVPGRYP LAVTKYRESE LCSSSIYHQN
DPWHPPVVFE QFLHNNENIE NEDLVAWVTV GFLHIPHSED IPNTATPGNS VGFLLRPFNF
FPEDPSLASR DTVIVWPRDN GPNYVQRWIP EDRDCSMPPP FSYNGTYRPV *

Mutated AA sequence

MPALGWAVAA ILMLQTAMAE PSPGTLPRKA GVFSDLSNQE LKAVHSFLWS KKELRLQPSS
TTTMAKNTVF LIEMLLPKKY HVLRFLDKGE RHPVREARAV IFFGDQEHPN VTEFAVGPLP
GPCYMRALSP RPGYQSSWAS RPISTAEYAL LYHTLQEATK PLHQFFLNTT GFSFQDCHDR
CLAFTDVAPR GVASGQRRSW LIIQRYVEGY FLHPTGLELL VDHGSTDAGH WAVEQVWYNG
KFYGSPEELA RKYADGEVDV VVLEDPLPGG KGHDSTEEPP LFSSHKPRGD FPSPIHVSGP
RLVQPHGPRF RLEGNAVLYG GWSFAFRLRS SSGLQVLNVH FGGERIAYEV SVQEAVALYG
GHTPAGMQTK YLDVGWGLGS VTHELAPGID CPETATFLDT FHYYDADDPV HYPRALCLFE
MPTGVPLRRH FNSNFKGGFN FYAGLKGQVL VLRTTSTVYN YDYIWDFIFY PNGVMEAKIH
ATGYVHATFY TPEGLRHGTR LHTHLIGNIH THLVHYRVDL DVAGTKNSFQ TLQMKLENIT
NPWSPRHRVV QPTLEQTQYS WERQAAFRFK RKLPKYLLFT SPQENPWGHK RTYRLQIHSM
ADQVLPPGWQ EEQAITWART EGGQPRALSQ AASPVPGRYP LAVTKYRESE LCSSSIYHQN
DPWHPPVVFE QFLHNNENIE NEDLVAWVTV GFLHIPHSED IPNTATPGNS VGFLLRPFNF
FPEDPSLASR DTVIVWPRDN GPNYVQRWIP EDRDCSMPPP FSYNGTYRPV *

Position of stopcodon in wt / mu CDS

2313 / 2313

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

771 / 771

Position of stopcodon in wt / mu cDNA

2373 / 2373

Position of start ATG in wt / mu cDNA

61 / 61

Last intron/exon boundary

2106

Theoretical NMD boundary in CDS

1995

Length of CDS

2313

Coding sequence (CDS) position

1437

cDNA position

1497

gDNA position

33281

Chromosomal position

150857907

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

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