MutationTaster - study a chromosomal position

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...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000205214
Querying Taster for transcript #2: ENST00000513376
Querying Taster for transcript #3: ENST00000503808
Querying Taster for transcript #4: ENST00000502617
Querying Taster for transcript #5: ENST00000434343
Querying Taster for transcript #6: ENST00000451613
MT speed 0 s - this script 4.127754 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AASDH	polymorphism_automatic	8.81961170762224e-13	simple_aae				A747V	single base exchange	rs3796544		show file
AASDH	polymorphism_automatic	8.81961170762224e-13	simple_aae				A647V	single base exchange	rs3796544		show file
AASDH	polymorphism_automatic	8.81961170762224e-13	simple_aae				A747V	single base exchange	rs3796544		show file
AASDH	polymorphism_automatic	8.81961170762224e-13	simple_aae				A262V	single base exchange	rs3796544		show file
AASDH	polymorphism_automatic	8.81961170762224e-13	simple_aae				A747V	single base exchange	rs3796544		show file
AASDH	polymorphism_automatic	1.46405110257319e-12	simple_aae				A594V	single base exchange	rs3796544		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999118 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:57215677G>AN/A show variant in all transcripts IGV

HGNC symbol

AASDH

Ensembl transcript ID

ENST00000205214

Genbank transcript ID

NM_181806

UniProt peptide

Q4L235

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2240C>T
cDNA.2421C>T
g.37990C>T

AA changes

A747V Score: 64 explain score(s)

position(s) of altered AA
if AA alteration in CDS

747

frameshift

known variant

Reference ID: rs3796544

database	homozygous (A/A)	heterozygous	allele carriers
1000G	221	950	1171
ExAC	8727	15313	24040

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.042	0
	-2.044	0
(flanking)	0.433	0.003

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	37994	wt: 0.5304 / mu: 0.5337 (marginal change - not scored)	wt: GCGATAGGGACTCAG mu: GTGATAGGGACTCAG	GATA\|ggga

distance from splice site

249

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

747

mutated

not conserved

747

Ptroglodytes

all identical

ENSPTRG00000016079

746

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000055923

749

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000015712

738

Drerio

all conserved

ENSDARG00000022730

765

Dmelanogaster

not conserved

FBgn0027780

776

Celegans

no alignment

W09D6.1

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3297 / 3297

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

1099 / 1099

position of stopcodon in wt / mu cDNA

3478 / 3478

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

182 / 182

chromosome

strand

-1

last intron/exon boundary

3089

theoretical NMD boundary in CDS

2857

length of CDS

3297

coding sequence (CDS) position

2240

cDNA position
(for ins/del: last normal base / first normal base)

2421

gDNA position
(for ins/del: last normal base / first normal base)

37990

chromosomal position
(for ins/del: last normal base / first normal base)

57215677

original gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

original cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

wildtype AA sequence

MTLQELVHKA ASCYMDRVAV CFDECNNQLP VYYTYKTVVN AASELSNFLL LHCDFQGIRE
IGLYCQPGID LPSWILGILQ VPAAYVPIEP DSPPSLSTHF MKKCNLKYIL VEKKQINKFK
SFHETLLNYD TFTVEHNDLV LFRLHWKNTE VNLMLNDGKE KYEKEKIKSI SSEHVNEEKA
EEHMDLRLKH CLAYVLHTSG TTGIPKIVRV PHKCIVPNIQ HFRVLFDITQ EDVLFLASPL
TFDPSVVEIF LALSSGASLL IVPTSVKLLP SKLASVLFSH HRVTVLQATP TLLRRFGSQL
IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI FNVYGITEVS SWATIYRIPE
KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ VFLGGRNRVC FLDDEVTVPL
GTMRATGDFV TVKDGEIFFL GRKDSQIKRH GKRLNIELVQ QVAEELQQVE SCAVTWYNQE
KLILFMVSKD ASVKEYIFKE LQKYLPSHAV PDELVLIDSL PFTSHGKIDV SELNKIYLNY
INLKSENKLS GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES LFLNSGGDSL KSIRLLSEIE
KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK SCATKRKLSD INQEEASGTS
LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG HCSSACPSDS VSQTNIQNLK
GLNSPVLIGK SKDPSCVAKV SEEGKPAIGT QKMELHVRWR SDTGKCVDAS PLVVIPTFDK
SSTTVYIGSH SHRMKAVDFY SGKVKWEQIL GDRIESSACV SKCGNFIVVG CYNGLVYVLK
SNSGEKYWMF TTEDAVKSSA TMDPTTGLIY IGSHDQHAYA LDIYRKKCVW KSKCGGTVFS
SPCLNLIPHH LYFATLGGLL LAVNPATGNV IWKHSCGKPL FSSPQCCSQY ICIGCVDGNL
LCFTHFGEQV WQFSTSGPIF SSPCTSPSEQ KIFFGSHDCF IYCCNMKGHL QWKFETTSRV
YATPFAFHNY NGSNEMLLAA ASTDGKVWIL ESQSGQLQSV YELPGEVFSS PVVLESMLII
GCRDNYVYCL DLLGGNQK*

mutated AA sequence

MTLQELVHKA ASCYMDRVAV CFDECNNQLP VYYTYKTVVN AASELSNFLL LHCDFQGIRE
IGLYCQPGID LPSWILGILQ VPAAYVPIEP DSPPSLSTHF MKKCNLKYIL VEKKQINKFK
SFHETLLNYD TFTVEHNDLV LFRLHWKNTE VNLMLNDGKE KYEKEKIKSI SSEHVNEEKA
EEHMDLRLKH CLAYVLHTSG TTGIPKIVRV PHKCIVPNIQ HFRVLFDITQ EDVLFLASPL
TFDPSVVEIF LALSSGASLL IVPTSVKLLP SKLASVLFSH HRVTVLQATP TLLRRFGSQL
IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI FNVYGITEVS SWATIYRIPE
KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ VFLGGRNRVC FLDDEVTVPL
GTMRATGDFV TVKDGEIFFL GRKDSQIKRH GKRLNIELVQ QVAEELQQVE SCAVTWYNQE
KLILFMVSKD ASVKEYIFKE LQKYLPSHAV PDELVLIDSL PFTSHGKIDV SELNKIYLNY
INLKSENKLS GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES LFLNSGGDSL KSIRLLSEIE
KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK SCATKRKLSD INQEEASGTS
LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG HCSSACPSDS VSQTNIQNLK
GLNSPVLIGK SKDPSCVAKV SEEGKPVIGT QKMELHVRWR SDTGKCVDAS PLVVIPTFDK
SSTTVYIGSH SHRMKAVDFY SGKVKWEQIL GDRIESSACV SKCGNFIVVG CYNGLVYVLK
SNSGEKYWMF TTEDAVKSSA TMDPTTGLIY IGSHDQHAYA LDIYRKKCVW KSKCGGTVFS
SPCLNLIPHH LYFATLGGLL LAVNPATGNV IWKHSCGKPL FSSPQCCSQY ICIGCVDGNL
LCFTHFGEQV WQFSTSGPIF SSPCTSPSEQ KIFFGSHDCF IYCCNMKGHL QWKFETTSRV
YATPFAFHNY NGSNEMLLAA ASTDGKVWIL ESQSGQLQSV YELPGEVFSS PVVLESMLII
GCRDNYVYCL DLLGGNQK*

speed

0.33 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999118 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:57215677G>AN/A show variant in all transcripts IGV

HGNC symbol

AASDH

Ensembl transcript ID

ENST00000513376

Genbank transcript ID

N/A

UniProt peptide

Q4L235

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1940C>T
cDNA.2072C>T
g.37990C>T

AA changes

A647V Score: 64 explain score(s)

position(s) of altered AA
if AA alteration in CDS

647

frameshift

known variant

Reference ID: rs3796544

database	homozygous (A/A)	heterozygous	allele carriers
1000G	221	950	1171
ExAC	8727	15313	24040

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.042	0
	-2.044	0
(flanking)	0.433	0.003

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	37994	wt: 0.5304 / mu: 0.5337 (marginal change - not scored)	wt: GCGATAGGGACTCAG mu: GTGATAGGGACTCAG	GATA\|ggga

distance from splice site

249

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

647

mutated

not conserved

647

Ptroglodytes

all identical

ENSPTRG00000016079

746

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000055923

749

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000015712

747

Drerio

all conserved

ENSDARG00000022730

774

Dmelanogaster

not conserved

FBgn0027780

776

Celegans

no alignment

W09D6.1

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2997 / 2997

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

999 / 999

position of stopcodon in wt / mu cDNA

3129 / 3129

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

133 / 133

chromosome

strand

-1

last intron/exon boundary

2740

theoretical NMD boundary in CDS

2557

length of CDS

2997

coding sequence (CDS) position

1940

cDNA position
(for ins/del: last normal base / first normal base)

2072

gDNA position
(for ins/del: last normal base / first normal base)

37990

chromosomal position
(for ins/del: last normal base / first normal base)

57215677

original gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

original cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

wildtype AA sequence

MKKCNLKYIL VEKKQINKFK SFHETLLNYD TFTVEHNDLV LFRLHWKNTE VNLMLNDGKE
KYEKEKIKSI SSEHVNEEKA EEHMDLRLKH CLAYVLHTSG TTGIPKIVRV PHKCIVPNIQ
HFRVLFDITQ EDVLFLASPL TFDPSVVEIF LALSSGASLL IVPTSVKLLP SKLASVLFSH
HRVTVLQATP TLLRRFGSQL IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI
FNVYGITEVS SWATIYRIPE KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ
VFLGGRNRVC FLDDEVTVPL GTMRATGDFV TVKDGEIFFL GRKDSQIKRH GKRLNIELVQ
QVAEELQQVE SCAVTWYNQE KLILFMVSKD ASVKEYIFKE LQKYLPSHAV PDELVLIDSL
PFTSHGKIDV SELNKIYLNY INLKSENKLS GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES
LFLNSGGDSL KSIRLLSEIE KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK
SCATKRKLSD INQEEASGTS LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG
HCSSACPSDS VSQTNIQNLK GLNSPVLIGK SKDPSCVAKV SEEGKPAIGT QKMELHVRWR
SDTGKCVDAS PLVVIPTFDK SSTTVYIGSH SHRMKAVDFY SGKVKWEQIL GDRIESSACV
SKCGNFIVVG CYNGLVYVLK SNSGEKYWMF TTEDAVKSSA TMDPTTGLIY IGSHDQHAYA
LDIYRKKCVW KSKCGGTVFS SPCLNLIPHH LYFATLGGLL LAVNPATGNV IWKHSCGKPL
FSSPQCCSQY ICIGCVDGNL LCFTHFGEQV WQFSTSGPIF SSPCTSPSEQ KIFFGSHDCF
IYCCNMKGHL QWKFETTSRV YATPFAFHNY NGSNEMLLAA ASTDGKVWIL ESQSGQLQSV
YELPGEVFSS PVVLESMLII GCRDNYVYCL DLLGGNQK*

mutated AA sequence

MKKCNLKYIL VEKKQINKFK SFHETLLNYD TFTVEHNDLV LFRLHWKNTE VNLMLNDGKE
KYEKEKIKSI SSEHVNEEKA EEHMDLRLKH CLAYVLHTSG TTGIPKIVRV PHKCIVPNIQ
HFRVLFDITQ EDVLFLASPL TFDPSVVEIF LALSSGASLL IVPTSVKLLP SKLASVLFSH
HRVTVLQATP TLLRRFGSQL IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI
FNVYGITEVS SWATIYRIPE KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ
VFLGGRNRVC FLDDEVTVPL GTMRATGDFV TVKDGEIFFL GRKDSQIKRH GKRLNIELVQ
QVAEELQQVE SCAVTWYNQE KLILFMVSKD ASVKEYIFKE LQKYLPSHAV PDELVLIDSL
PFTSHGKIDV SELNKIYLNY INLKSENKLS GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES
LFLNSGGDSL KSIRLLSEIE KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK
SCATKRKLSD INQEEASGTS LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG
HCSSACPSDS VSQTNIQNLK GLNSPVLIGK SKDPSCVAKV SEEGKPVIGT QKMELHVRWR
SDTGKCVDAS PLVVIPTFDK SSTTVYIGSH SHRMKAVDFY SGKVKWEQIL GDRIESSACV
SKCGNFIVVG CYNGLVYVLK SNSGEKYWMF TTEDAVKSSA TMDPTTGLIY IGSHDQHAYA
LDIYRKKCVW KSKCGGTVFS SPCLNLIPHH LYFATLGGLL LAVNPATGNV IWKHSCGKPL
FSSPQCCSQY ICIGCVDGNL LCFTHFGEQV WQFSTSGPIF SSPCTSPSEQ KIFFGSHDCF
IYCCNMKGHL QWKFETTSRV YATPFAFHNY NGSNEMLLAA ASTDGKVWIL ESQSGQLQSV
YELPGEVFSS PVVLESMLII GCRDNYVYCL DLLGGNQK*

speed

0.85 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999118 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:57215677G>AN/A show variant in all transcripts IGV

HGNC symbol

AASDH

Ensembl transcript ID

ENST00000502617

Genbank transcript ID

N/A

UniProt peptide

Q4L235

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2240C>T
cDNA.2421C>T
g.37990C>T

AA changes

A747V Score: 64 explain score(s)

position(s) of altered AA
if AA alteration in CDS

747

frameshift

known variant

Reference ID: rs3796544

database	homozygous (A/A)	heterozygous	allele carriers
1000G	221	950	1171
ExAC	8727	15313	24040

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.042	0
	-2.044	0
(flanking)	0.433	0.003

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	37994	wt: 0.5304 / mu: 0.5337 (marginal change - not scored)	wt: GCGATAGGGACTCAG mu: GTGATAGGGACTCAG	GATA\|ggga

distance from splice site

548

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

747

mutated

not conserved

747

Ptroglodytes

all identical

ENSPTRG00000016079

746

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000055923

749

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000015712

738

Drerio

all conserved

ENSDARG00000022730

765

Dmelanogaster

not conserved

FBgn0027780

920

Celegans

no alignment

W09D6.1

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2526 / 2526

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

842 / 842

position of stopcodon in wt / mu cDNA

2707 / 2707

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

182 / 182

chromosome

strand

-1

last intron/exon boundary

1874

theoretical NMD boundary in CDS

1642

length of CDS

2526

coding sequence (CDS) position

2240

cDNA position
(for ins/del: last normal base / first normal base)

2421

gDNA position
(for ins/del: last normal base / first normal base)

37990

chromosomal position
(for ins/del: last normal base / first normal base)

57215677

original gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

original cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

wildtype AA sequence

mutated AA sequence

MTLQELVHKA ASCYMDRVAV CFDECNNQLP VYYTYKTVVN AASELSNFLL LHCDFQGIRE
IGLYCQPGID LPSWILGILQ VPAAYVPIEP DSPPSLSTHF MKKCNLKYIL VEKKQINKFK
SFHETLLNYD TFTVEHNDLV LFRLHWKNTE VNLMLNDGKE KYEKEKIKSI SSEHVNEEKA
EEHMDLRLKH CLAYVLHTSG TTGIPKIVRV PHKCIVPNIQ HFRVLFDITQ EDVLFLASPL
TFDPSVVEIF LALSSGASLL IVPTSVKLLP SKLASVLFSH HRVTVLQATP TLLRRFGSQL
IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI FNVYGITEVS SWATIYRIPE
KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ VFLGGRNRVC FLDDEVTVPL
GTMRATGDFV TVKDGEIFFL GRKDSQIKRH GKRLNIELVQ QVAEELQQVE SCAVTWYNQE
KLILFMVSKD ASVKEYIFKE LQKYLPSHAV PDELVLIDSL PFTSHGKIDV SELNKIYLNY
INLKSENKLS GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES LFLNSGGDSL KSIRLLSEIE
KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK SCATKRKLSD INQEEASGTS
LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG HCSSACPSDS VSQTNIQNLK
GLNSPVLIGK SKDPSCVAKV SEEGKPVIGT QKMELHVRWR SDTGKCVDAS PLVVIPTFDK
SSTTVYIGSH SHRMKAVDFY SGKVKWEQIL GDRIESSACV SKCGNFIVVG KFLNLRFVEL
N*

speed

0.91 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999118 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:57215677G>AN/A show variant in all transcripts IGV

HGNC symbol

AASDH

Ensembl transcript ID

ENST00000434343

Genbank transcript ID

N/A

UniProt peptide

Q4L235

alteration type

single base exchange

alteration region

CDS

DNA changes

c.785C>T
cDNA.1793C>T
g.37990C>T

AA changes

A262V Score: 64 explain score(s)

position(s) of altered AA
if AA alteration in CDS

262

frameshift

known variant

Reference ID: rs3796544

database	homozygous (A/A)	heterozygous	allele carriers
1000G	221	950	1171
ExAC	8727	15313	24040

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.042	0
	-2.044	0
(flanking)	0.433	0.003

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	37994	wt: 0.5304 / mu: 0.5337 (marginal change - not scored)	wt: GCGATAGGGACTCAG mu: GTGATAGGGACTCAG	GATA\|ggga

distance from splice site

249

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

262

mutated

not conserved

262

Ptroglodytes

all identical

ENSPTRG00000016079

746

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000055923

749

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000015712

728

Drerio

all conserved

ENSDARG00000022730

765

Dmelanogaster

not conserved

FBgn0027780

920

Celegans

no alignment

W09D6.1

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1842 / 1842

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

614 / 614

position of stopcodon in wt / mu cDNA

2850 / 2850

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

1009 / 1009

chromosome

strand

-1

last intron/exon boundary

2461

theoretical NMD boundary in CDS

1402

length of CDS

1842

coding sequence (CDS) position

785

cDNA position
(for ins/del: last normal base / first normal base)

1793

gDNA position
(for ins/del: last normal base / first normal base)

37990

chromosomal position
(for ins/del: last normal base / first normal base)

57215677

original gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

original cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

wildtype AA sequence

MVSKDASVKE YIFKELQKYL PSHAVPDELV LIDSLPFTSH GKIDVSELNK IYLNYINLKS
ENKLSGKEDL WEKLQYLWKS TLNLPEDLLR VPDESLFLNS GGDSLKSIRL LSEIEKLVGT
SVPGLLEIIL SSSILEIYNH ILQTVVPDED VTFRKSCATK RKLSDINQEE ASGTSLHQKA
IMTFTCHNEI NAFVVLSRGS QILSLNSTRF LTKLGHCSSA CPSDSVSQTN IQNLKGLNSP
VLIGKSKDPS CVAKVSEEGK PAIGTQKMEL HVRWRSDTGK CVDASPLVVI PTFDKSSTTV
YIGSHSHRMK AVDFYSGKVK WEQILGDRIE SSACVSKCGN FIVVGCYNGL VYVLKSNSGE
KYWMFTTEDA VKSSATMDPT TGLIYIGSHD QHAYALDIYR KKCVWKSKCG GTVFSSPCLN
LIPHHLYFAT LGGLLLAVNP ATGNVIWKHS CGKPLFSSPQ CCSQYICIGC VDGNLLCFTH
FGEQVWQFST SGPIFSSPCT SPSEQKIFFG SHDCFIYCCN MKGHLQWKFE TTSRVYATPF
AFHNYNGSNE MLLAAASTDG KVWILESQSG QLQSVYELPG EVFSSPVVLE SMLIIGCRDN
YVYCLDLLGG NQK*

mutated AA sequence

MVSKDASVKE YIFKELQKYL PSHAVPDELV LIDSLPFTSH GKIDVSELNK IYLNYINLKS
ENKLSGKEDL WEKLQYLWKS TLNLPEDLLR VPDESLFLNS GGDSLKSIRL LSEIEKLVGT
SVPGLLEIIL SSSILEIYNH ILQTVVPDED VTFRKSCATK RKLSDINQEE ASGTSLHQKA
IMTFTCHNEI NAFVVLSRGS QILSLNSTRF LTKLGHCSSA CPSDSVSQTN IQNLKGLNSP
VLIGKSKDPS CVAKVSEEGK PVIGTQKMEL HVRWRSDTGK CVDASPLVVI PTFDKSSTTV
YIGSHSHRMK AVDFYSGKVK WEQILGDRIE SSACVSKCGN FIVVGCYNGL VYVLKSNSGE
KYWMFTTEDA VKSSATMDPT TGLIYIGSHD QHAYALDIYR KKCVWKSKCG GTVFSSPCLN
LIPHHLYFAT LGGLLLAVNP ATGNVIWKHS CGKPLFSSPQ CCSQYICIGC VDGNLLCFTH
FGEQVWQFST SGPIFSSPCT SPSEQKIFFG SHDCFIYCCN MKGHLQWKFE TTSRVYATPF
AFHNYNGSNE MLLAAASTDG KVWILESQSG QLQSVYELPG EVFSSPVVLE SMLIIGCRDN
YVYCLDLLGG NQK*

speed

0.32 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999118 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:57215677G>AN/A show variant in all transcripts IGV

HGNC symbol

AASDH

Ensembl transcript ID

ENST00000451613

Genbank transcript ID

N/A

UniProt peptide

Q4L235

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2240C>T
cDNA.2410C>T
g.37990C>T

AA changes

A747V Score: 64 explain score(s)

position(s) of altered AA
if AA alteration in CDS

747

frameshift

known variant

Reference ID: rs3796544

database	homozygous (A/A)	heterozygous	allele carriers
1000G	221	950	1171
ExAC	8727	15313	24040

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.042	0
	-2.044	0
(flanking)	0.433	0.003

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	37994	wt: 0.5304 / mu: 0.5337 (marginal change - not scored)	wt: GCGATAGGGACTCAG mu: GTGATAGGGACTCAG	GATA\|ggga

distance from splice site

249

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

747

mutated

not conserved

747

Ptroglodytes

all identical

ENSPTRG00000016079

746

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000055923

749

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000015712

738

Drerio

all conserved

ENSDARG00000022730

765

Dmelanogaster

not conserved

FBgn0027780

920

Celegans

no alignment

W09D6.1

n/a

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2574 / 2574

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

858 / 858

position of stopcodon in wt / mu cDNA

2744 / 2744

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

171 / 171

chromosome

strand

-1

last intron/exon boundary

2659

theoretical NMD boundary in CDS

2438

length of CDS

2574

coding sequence (CDS) position

2240

cDNA position
(for ins/del: last normal base / first normal base)

2410

gDNA position
(for ins/del: last normal base / first normal base)

37990

chromosomal position
(for ins/del: last normal base / first normal base)

57215677

original gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

original cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

wildtype AA sequence

mutated AA sequence

MTLQELVHKA ASCYMDRVAV CFDECNNQLP VYYTYKTVVN AASELSNFLL LHCDFQGIRE
IGLYCQPGID LPSWILGILQ VPAAYVPIEP DSPPSLSTHF MKKCNLKYIL VEKKQINKFK
SFHETLLNYD TFTVEHNDLV LFRLHWKNTE VNLMLNDGKE KYEKEKIKSI SSEHVNEEKA
EEHMDLRLKH CLAYVLHTSG TTGIPKIVRV PHKCIVPNIQ HFRVLFDITQ EDVLFLASPL
TFDPSVVEIF LALSSGASLL IVPTSVKLLP SKLASVLFSH HRVTVLQATP TLLRRFGSQL
IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI FNVYGITEVS SWATIYRIPE
KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ VFLGGRNRVC FLDDEVTVPL
GTMRATGDFV TVKDGEIFFL GRKDSQIKRH GKRLNIELVQ QVAEELQQVE SCAVTWYNQE
KLILFMVSKD ASVKEYIFKE LQKYLPSHAV PDELVLIDSL PFTSHGKIDV SELNKIYLNY
INLKSENKLS GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES LFLNSGGDSL KSIRLLSEIE
KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK SCATKRKLSD INQEEASGTS
LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG HCSSACPSDS VSQTNIQNLK
GLNSPVLIGK SKDPSCVAKV SEEGKPVIGT QKMELHVRWR SDTGKCVDAS PLVVIPTFDK
SSTTVYIGSH SHRMKAVDFY SGKVKWEQIL GDRIESSACV SKCGNFIVVG LAVLYQWTNL
FIPVYLTIRA KNIFWFP*

speed

0.32 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998536 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr4:57215677G>AN/A show variant in all transcripts IGV

HGNC symbol

AASDH

Ensembl transcript ID

ENST00000503808

Genbank transcript ID

N/A

UniProt peptide

Q4L235

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1781C>T
cDNA.2259C>T
g.37990C>T

AA changes

A594V Score: 64 explain score(s)

position(s) of altered AA
if AA alteration in CDS

594

frameshift

known variant

Reference ID: rs3796544

database	homozygous (A/A)	heterozygous	allele carriers
1000G	221	950	1171
ExAC	8727	15313	24040

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.042	0
	-2.044	0
(flanking)	0.433	0.003

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor marginally increased	37994	wt: 0.5304 / mu: 0.5337 (marginal change - not scored)	wt: GCGATAGGGACTCAG mu: GTGATAGGGACTCAG	GATA\|ggga

distance from splice site

249

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

594

mutated

not conserved

594

Ptroglodytes

all identical

ENSPTRG00000016079

746

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000055923

749

Ggallus

no homologue

Trubripes

not conserved

ENSTRUG00000015712

725

Drerio

all conserved

ENSDARG00000022730

775

Dmelanogaster

not conserved

FBgn0027780

920

Celegans

no alignment

W09D6.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
555	626	DOMAIN	Acyl carrier.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2370 / 2370

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

790 / 790

position of stopcodon in wt / mu cDNA

2848 / 2848

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

479 / 479

chromosome

strand

-1

last intron/exon boundary

2763

theoretical NMD boundary in CDS

2234

length of CDS

2370

coding sequence (CDS) position

1781

cDNA position
(for ins/del: last normal base / first normal base)

2259

gDNA position
(for ins/del: last normal base / first normal base)

37990

chromosomal position
(for ins/del: last normal base / first normal base)

57215677

original gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered gDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

original cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGCGATAGGGACTCAGAAAATGG

altered cDNA sequence snippet

TTCTGAAGAGGGGAAACCTGTGATAGGGACTCAGAAAATGG

wildtype AA sequence

MLNDGKEKYE KEKIKSISSE HVNEEKAEEH MDLRLKHCLA YVLHTSGTTG IPKIVRVPHK
CIVPNIQHFR VLFDITQEDV LFLASPLTFD PSVVEIFLAL SSGASLLIVP TSVKLLPSKL
ASVLFSHHRV TVLQATPTLL RRFGSQLIKS TVLSATTSLR VLALGGEAFP SLTVLRSWRG
EGNKTQIFNV YGITEVSSWA TIYRIPEKTL NSTLKCELPV QLGFPLLGTV VEVRDTNGFT
IQEGSGQVFL GGRNRVCFLD DEVTVPLGTM RATGDFVTVK DGEIFFLGRK DSQIKRHGKR
LNIELVQQVA EELQQVESCA VTWYNQEKLI LFMVSKDASV KEYIFKELQK YLPSHAVPDE
LVLIDSLPFT SHGKIDVSEL NKIYLNYINL KSENKLSGKE DLWEKLQYLW KSTLNLPEDL
LRVPDESLFL NSGGDSLKSI RLLSEIEKLV GTSVPGLLEI ILSSSILEIY NHILQTVVPD
EDVTFRKSCA TKRKLSDINQ EEASGTSLHQ KAIMTFTCHN EINAFVVLSR GSQILSLNST
RFLTKLGHCS SACPSDSVSQ TNIQNLKGLN SPVLIGKSKD PSCVAKVSEE GKPAIGTQKM
ELHVRWRSDT GKCVDASPLV VIPTFDKSST TVYIGSHSHR MKAVDFYSGK VKWEQILGDR
IESSACVSKC GNFIVVEKEV CLEVKMWRNC LFLSVFEPDS TSFVFCYIGR TFTGCKSCYW
ERYLETFLWK TTLLFPTMLL TVYLYWLCRW EFTLLYSLWR TGLAVLYQWT NLFIPVYLTI
RAKNIFWFP*

mutated AA sequence

MLNDGKEKYE KEKIKSISSE HVNEEKAEEH MDLRLKHCLA YVLHTSGTTG IPKIVRVPHK
CIVPNIQHFR VLFDITQEDV LFLASPLTFD PSVVEIFLAL SSGASLLIVP TSVKLLPSKL
ASVLFSHHRV TVLQATPTLL RRFGSQLIKS TVLSATTSLR VLALGGEAFP SLTVLRSWRG
EGNKTQIFNV YGITEVSSWA TIYRIPEKTL NSTLKCELPV QLGFPLLGTV VEVRDTNGFT
IQEGSGQVFL GGRNRVCFLD DEVTVPLGTM RATGDFVTVK DGEIFFLGRK DSQIKRHGKR
LNIELVQQVA EELQQVESCA VTWYNQEKLI LFMVSKDASV KEYIFKELQK YLPSHAVPDE
LVLIDSLPFT SHGKIDVSEL NKIYLNYINL KSENKLSGKE DLWEKLQYLW KSTLNLPEDL
LRVPDESLFL NSGGDSLKSI RLLSEIEKLV GTSVPGLLEI ILSSSILEIY NHILQTVVPD
EDVTFRKSCA TKRKLSDINQ EEASGTSLHQ KAIMTFTCHN EINAFVVLSR GSQILSLNST
RFLTKLGHCS SACPSDSVSQ TNIQNLKGLN SPVLIGKSKD PSCVAKVSEE GKPVIGTQKM
ELHVRWRSDT GKCVDASPLV VIPTFDKSST TVYIGSHSHR MKAVDFYSGK VKWEQILGDR
IESSACVSKC GNFIVVEKEV CLEVKMWRNC LFLSVFEPDS TSFVFCYIGR TFTGCKSCYW
ERYLETFLWK TTLLFPTMLL TVYLYWLCRW EFTLLYSLWR TGLAVLYQWT NLFIPVYLTI
RAKNIFWFP*

speed

0.36 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems