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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000262097
Querying Taster for transcript #2: ENST00000381733
Querying Taster for transcript #3: ENST00000520781
Querying Taster for transcript #4: ENST00000314146
Querying Taster for transcript #5: ENST00000417108
MT speed 0 s - this script 3.253566 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ASAH1	disease_causing	0.999999999183087	simple_aae		affected		E138V	single base exchange	rs137853594		show file
ASAH1	disease_causing	0.999999999183087	simple_aae		affected		E154V	single base exchange	rs137853594		show file
ASAH1	disease_causing	0.999999999183087	simple_aae		affected		E132V	single base exchange	rs137853594		show file
ASAH1	disease_causing	1	without_aae		affected			single base exchange	rs137853594		show file
ASAH1	disease_causing	1	without_aae		affected			single base exchange	rs137853594		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999183087 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs92 (probable pathogenic)
known disease mutation at this position (HGMD CM993321)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:17922010T>AN/A show variant in all transcripts IGV

HGNC symbol

ASAH1

Ensembl transcript ID

ENST00000262097

Genbank transcript ID

NM_177924

UniProt peptide

Q13510

alteration type

single base exchange

alteration region

CDS

DNA changes

c.413A>T
cDNA.725A>T
g.20485A>T

AA changes

E138V Score: 121 explain score(s)

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

138

frameshift

known variant

Reference ID: rs137853594
Allele 'A' was neither found in ExAC nor 1000G.
known as potential disease variant: rs92 (probable pathogenic for Farber disease|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993321)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993321)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993321)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.191	0.144
	4.578	0.998
(flanking)	5.531	1

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
Acc increased	20496	wt: 0.70 / mu: 0.90	wt: TTTTTTATGAATTATTTACCATTTGTACTTCAATAGTAGCA mu: TTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGCA	acca\|TTTG
Acc increased	20492	wt: 0.46 / mu: 0.87	wt: AATATTTTTTATGAATTATTTACCATTTGTACTTCAATAGT mu: AATATTTTTTATGTATTATTTACCATTTGTACTTCAATAGT	attt\|ACCA
Acc increased	20489	wt: 0.35 / mu: 0.91	wt: TTCAATATTTTTTATGAATTATTTACCATTTGTACTTCAAT mu: TTCAATATTTTTTATGTATTATTTACCATTTGTACTTCAAT	atta\|TTTA
Acc marginally increased	20483	wt: 0.9218 / mu: 0.9730 (marginal change - not scored)	wt: ATTTCATTCAATATTTTTTATGAATTATTTACCATTTGTAC mu: ATTTCATTCAATATTTTTTATGTATTATTTACCATTTGTAC	ttat\|GAAT
Acc increased	20481	wt: 0.41 / mu: 0.45	wt: TTATTTCATTCAATATTTTTTATGAATTATTTACCATTTGT mu: TTATTTCATTCAATATTTTTTATGTATTATTTACCATTTGT	tttt\|ATGA
Acc marginally increased	20476	wt: 0.5256 / mu: 0.5360 (marginal change - not scored)	wt: AGAGATTATTTCATTCAATATTTTTTATGAATTATTTACCA mu: AGAGATTATTTCATTCAATATTTTTTATGTATTATTTACCA	atat\|TTTT
Acc marginally increased	20478	wt: 0.4093 / mu: 0.4334 (marginal change - not scored)	wt: AGATTATTTCATTCAATATTTTTTATGAATTATTTACCATT mu: AGATTATTTCATTCAATATTTTTTATGTATTATTTACCATT	attt\|TTTA
Acc marginally increased	20485	wt: 0.9366 / mu: 0.9401 (marginal change - not scored)	wt: TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT mu: TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT	atga\|ATTA
Acc gained	20490	0.69	mu: TCAATATTTTTTATGTATTATTTACCATTTGTACTTCAATA	ttat\|TTAC
Acc gained	20495	0.43	mu: ATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGC	tacc\|ATTT
Acc gained	20494	0.44	mu: TATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAG	ttac\|CATT
Acc gained	20487	0.42	mu: CATTCAATATTTTTTATGTATTATTTACCATTTGTACTTCA	gtat\|TATT
Donor gained	20478	0.38	mu: ATATTTTTTATGTAT	ATTT\|ttta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

138

mutated

not conserved

138

Ptroglodytes

all identical

ENSPTRG00000020027

138

Mmulatta

all identical

ENSMMUG00000015497

154

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031591

137

Ggallus

all identical

ENSGALG00000013599

138

Trubripes

all identical

ENSTRUG00000016165

144

Drerio

all identical

ENSDARG00000037091

134

Dmelanogaster

no homologue

Celegans

all identical

K11D2.2

135

Xtropicalis

all identical

ENSXETG00000012463

140

protein features

start (aa)	end (aa)	feature	details
155	155	CONFLICT	L -> P (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)
173	173	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
195	195	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
233	233	CONFLICT	Y -> N (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)
259	259	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
286	286	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
342	342	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
348	348	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
364	364	CONFLICT	L -> P (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1188 / 1188

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

396 / 396

position of stopcodon in wt / mu cDNA

1500 / 1500

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

313 / 313

chromosome

strand

-1

last intron/exon boundary

1411

theoretical NMD boundary in CDS

1048

length of CDS

1188

coding sequence (CDS) position

413

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

725

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

20485

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

17922010

original gDNA sequence snippet

TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT

altered gDNA sequence snippet

TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT

original cDNA sequence snippet

TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT

altered cDNA sequence snippet

TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT

wildtype AA sequence

MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY TINLDLPPYK
RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK LPGLLGNFPG PFEEEMKGIA
AVTDIPLGEI ISFNIFYELF TICTSIVAED KKGHLIHGRN MDFGVFLGWN INNDTWVITE
QLKPLTVNLD FQRNNKTVFK ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI
LGKKDVMWIG FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE
SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS FETMYDVLST
KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW*

mutated AA sequence

MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY TINLDLPPYK
RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK LPGLLGNFPG PFEEEMKGIA
AVTDIPLGEI ISFNIFYVLF TICTSIVAED KKGHLIHGRN MDFGVFLGWN INNDTWVITE
QLKPLTVNLD FQRNNKTVFK ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI
LGKKDVMWIG FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE
SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS FETMYDVLST
KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW*

speed

0.32 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

disease causing

Model: simple_aae, prob: 0.999999999183087 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs92 (probable pathogenic)
known disease mutation at this position (HGMD CM993321)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:17922010T>AN/A show variant in all transcripts IGV

HGNC symbol

ASAH1

Ensembl transcript ID

ENST00000381733

Genbank transcript ID

NM_004315

UniProt peptide

Q13510

alteration type

single base exchange

alteration region

CDS

DNA changes

c.461A>T
cDNA.628A>T
g.20485A>T

AA changes

E154V Score: 121 explain score(s)

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

154

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.191	0.144
	4.578	0.998
(flanking)	5.531	1

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
Acc increased	20496	wt: 0.70 / mu: 0.90	wt: TTTTTTATGAATTATTTACCATTTGTACTTCAATAGTAGCA mu: TTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGCA	acca\|TTTG
Acc increased	20492	wt: 0.46 / mu: 0.87	wt: AATATTTTTTATGAATTATTTACCATTTGTACTTCAATAGT mu: AATATTTTTTATGTATTATTTACCATTTGTACTTCAATAGT	attt\|ACCA
Acc increased	20489	wt: 0.35 / mu: 0.91	wt: TTCAATATTTTTTATGAATTATTTACCATTTGTACTTCAAT mu: TTCAATATTTTTTATGTATTATTTACCATTTGTACTTCAAT	atta\|TTTA
Acc marginally increased	20483	wt: 0.9218 / mu: 0.9730 (marginal change - not scored)	wt: ATTTCATTCAATATTTTTTATGAATTATTTACCATTTGTAC mu: ATTTCATTCAATATTTTTTATGTATTATTTACCATTTGTAC	ttat\|GAAT
Acc increased	20481	wt: 0.41 / mu: 0.45	wt: TTATTTCATTCAATATTTTTTATGAATTATTTACCATTTGT mu: TTATTTCATTCAATATTTTTTATGTATTATTTACCATTTGT	tttt\|ATGA
Acc marginally increased	20476	wt: 0.5256 / mu: 0.5360 (marginal change - not scored)	wt: AGAGATTATTTCATTCAATATTTTTTATGAATTATTTACCA mu: AGAGATTATTTCATTCAATATTTTTTATGTATTATTTACCA	atat\|TTTT
Acc marginally increased	20478	wt: 0.4093 / mu: 0.4334 (marginal change - not scored)	wt: AGATTATTTCATTCAATATTTTTTATGAATTATTTACCATT mu: AGATTATTTCATTCAATATTTTTTATGTATTATTTACCATT	attt\|TTTA
Acc marginally increased	20485	wt: 0.9366 / mu: 0.9401 (marginal change - not scored)	wt: TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT mu: TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT	atga\|ATTA
Acc gained	20490	0.69	mu: TCAATATTTTTTATGTATTATTTACCATTTGTACTTCAATA	ttat\|TTAC
Acc gained	20495	0.43	mu: ATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGC	tacc\|ATTT
Acc gained	20494	0.44	mu: TATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAG	ttac\|CATT
Acc gained	20487	0.42	mu: CATTCAATATTTTTTATGTATTATTTACCATTTGTACTTCA	gtat\|TATT
Donor gained	20478	0.38	mu: ATATTTTTTATGTAT	ATTT\|ttta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

154

mutated

not conserved

154

Ptroglodytes

all identical

ENSPTRG00000020027

138

Mmulatta

all identical

ENSMMUG00000015497

154

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031591

137

Ggallus

all identical

ENSGALG00000013599

138

Trubripes

all identical

ENSTRUG00000016165

144

Drerio

all identical

ENSDARG00000037091

134

Dmelanogaster

no homologue

Celegans

all identical

K11D2.2

137

Xtropicalis

all identical

ENSXETG00000012463

140

protein features

start (aa)	end (aa)	feature	details
155	155	CONFLICT	L -> P (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)
173	173	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
195	195	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
233	233	CONFLICT	Y -> N (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)
259	259	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
286	286	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
342	342	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
348	348	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
364	364	CONFLICT	L -> P (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1236 / 1236

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

412 / 412

position of stopcodon in wt / mu cDNA

1403 / 1403

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

168 / 168

chromosome

strand

-1

last intron/exon boundary

1314

theoretical NMD boundary in CDS

1096

length of CDS

1236

coding sequence (CDS) position

461

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

628

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

20485

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

17922010

original gDNA sequence snippet

TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT

altered gDNA sequence snippet

TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT

original cDNA sequence snippet

TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT

altered cDNA sequence snippet

TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT

wildtype AA sequence

MNCCIGLGEK ARGSHRASYP SLSALFTEAS ILGFGSFAVK AQWTEDCRKS TYPPSGPTYR
GAVPWYTINL DLPPYKRWHE LMLDKAPVLK VIVNSLKNMI NTFVPSGKIM QVVDEKLPGL
LGNFPGPFEE EMKGIAAVTD IPLGEIISFN IFYELFTICT SIVAEDKKGH LIHGRNMDFG
VFLGWNINND TWVITEQLKP LTVNLDFQRN NKTVFKASSF AGYVGMLTGF KPGLFSLTLN
ERFSINGGYL GILEWILGKK DVMWIGFLTR TVLENSTSYE EAKNLLTKTK ILAPAYFILG
GNQSGEGCVI TRDRKESLDV YELDAKQGRW YVVQTNYDRW KHPFFLDDRR TPAKMCLNRT
SQENISFETM YDVLSTKPVL NKLTVYTTLI DVTKGQFETY LRDCPDPCIG W*

mutated AA sequence

MNCCIGLGEK ARGSHRASYP SLSALFTEAS ILGFGSFAVK AQWTEDCRKS TYPPSGPTYR
GAVPWYTINL DLPPYKRWHE LMLDKAPVLK VIVNSLKNMI NTFVPSGKIM QVVDEKLPGL
LGNFPGPFEE EMKGIAAVTD IPLGEIISFN IFYVLFTICT SIVAEDKKGH LIHGRNMDFG
VFLGWNINND TWVITEQLKP LTVNLDFQRN NKTVFKASSF AGYVGMLTGF KPGLFSLTLN
ERFSINGGYL GILEWILGKK DVMWIGFLTR TVLENSTSYE EAKNLLTKTK ILAPAYFILG
GNQSGEGCVI TRDRKESLDV YELDAKQGRW YVVQTNYDRW KHPFFLDDRR TPAKMCLNRT
SQENISFETM YDVLSTKPVL NKLTVYTTLI DVTKGQFETY LRDCPDPCIG W*

speed

0.81 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999183087 (explain)

Summary

amino acid sequence changed
known as potential disease variant: rs92 (probable pathogenic)
known disease mutation at this position (HGMD CM993321)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:17922010T>AN/A show variant in all transcripts IGV

HGNC symbol

ASAH1

Ensembl transcript ID

ENST00000314146

Genbank transcript ID

NM_001127505

UniProt peptide

Q13510

alteration type

single base exchange

alteration region

CDS

DNA changes

c.395A>T
cDNA.579A>T
g.20485A>T

AA changes

E132V Score: 121 explain score(s)

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

132

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.191	0.144
	4.578	0.998
(flanking)	5.531	1

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
Acc increased	20496	wt: 0.70 / mu: 0.90	wt: TTTTTTATGAATTATTTACCATTTGTACTTCAATAGTAGCA mu: TTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGCA	acca\|TTTG
Acc increased	20492	wt: 0.46 / mu: 0.87	wt: AATATTTTTTATGAATTATTTACCATTTGTACTTCAATAGT mu: AATATTTTTTATGTATTATTTACCATTTGTACTTCAATAGT	attt\|ACCA
Acc increased	20489	wt: 0.35 / mu: 0.91	wt: TTCAATATTTTTTATGAATTATTTACCATTTGTACTTCAAT mu: TTCAATATTTTTTATGTATTATTTACCATTTGTACTTCAAT	atta\|TTTA
Acc marginally increased	20483	wt: 0.9218 / mu: 0.9730 (marginal change - not scored)	wt: ATTTCATTCAATATTTTTTATGAATTATTTACCATTTGTAC mu: ATTTCATTCAATATTTTTTATGTATTATTTACCATTTGTAC	ttat\|GAAT
Acc increased	20481	wt: 0.41 / mu: 0.45	wt: TTATTTCATTCAATATTTTTTATGAATTATTTACCATTTGT mu: TTATTTCATTCAATATTTTTTATGTATTATTTACCATTTGT	tttt\|ATGA
Acc marginally increased	20476	wt: 0.5256 / mu: 0.5360 (marginal change - not scored)	wt: AGAGATTATTTCATTCAATATTTTTTATGAATTATTTACCA mu: AGAGATTATTTCATTCAATATTTTTTATGTATTATTTACCA	atat\|TTTT
Acc marginally increased	20478	wt: 0.4093 / mu: 0.4334 (marginal change - not scored)	wt: AGATTATTTCATTCAATATTTTTTATGAATTATTTACCATT mu: AGATTATTTCATTCAATATTTTTTATGTATTATTTACCATT	attt\|TTTA
Acc marginally increased	20485	wt: 0.9366 / mu: 0.9401 (marginal change - not scored)	wt: TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT mu: TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT	atga\|ATTA
Acc gained	20490	0.69	mu: TCAATATTTTTTATGTATTATTTACCATTTGTACTTCAATA	ttat\|TTAC
Acc gained	20495	0.43	mu: ATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGC	tacc\|ATTT
Acc gained	20494	0.44	mu: TATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAG	ttac\|CATT
Acc gained	20487	0.42	mu: CATTCAATATTTTTTATGTATTATTTACCATTTGTACTTCA	gtat\|TATT
Donor gained	20478	0.38	mu: ATATTTTTTATGTAT	ATTT\|ttta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

132

mutated

not conserved

132

Ptroglodytes

all identical

ENSPTRG00000020027

116

Mmulatta

all identical

ENSMMUG00000015497

150

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031591

116

Ggallus

all identical

ENSGALG00000013599

119

Trubripes

all identical

ENSTRUG00000016165

144

Drerio

all identical

ENSDARG00000037091

133

Dmelanogaster

no homologue

Celegans

all identical

K11D2.2

133

Xtropicalis

all identical

ENSXETG00000012463

121

protein features

start (aa)	end (aa)	feature	details
155	155	CONFLICT	L -> P (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)
173	173	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
195	195	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
233	233	CONFLICT	Y -> N (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)
259	259	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
286	286	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
342	342	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
348	348	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
364	364	CONFLICT	L -> P (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1170 / 1170

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

390 / 390

position of stopcodon in wt / mu cDNA

1354 / 1354

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

185 / 185

chromosome

strand

-1

last intron/exon boundary

1265

theoretical NMD boundary in CDS

1030

length of CDS

1170

coding sequence (CDS) position

395

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

579

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

20485

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

17922010

original gDNA sequence snippet

TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT

altered gDNA sequence snippet

TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT

original cDNA sequence snippet

TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT

altered cDNA sequence snippet

TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT

wildtype AA sequence

MNCCIGLGEK ARGSHRASYP SLSALFTEAS ILGFGSFAVK AQWTEDCRKS TYPPSGPTVF
PAVIRYRGAV PWYTINLDLP PYKRWHELML DKAPVPGLLG NFPGPFEEEM KGIAAVTDIP
LGEIISFNIF YELFTICTSI VAEDKKGHLI HGRNMDFGVF LGWNINNDTW VITEQLKPLT
VNLDFQRNNK TVFKASSFAG YVGMLTGFKP GLFSLTLNER FSINGGYLGI LEWILGKKDV
MWIGFLTRTV LENSTSYEEA KNLLTKTKIL APAYFILGGN QSGEGCVITR DRKESLDVYE
LDAKQGRWYV VQTNYDRWKH PFFLDDRRTP AKMCLNRTSQ ENISFETMYD VLSTKPVLNK
LTVYTTLIDV TKGQFETYLR DCPDPCIGW*

mutated AA sequence

MNCCIGLGEK ARGSHRASYP SLSALFTEAS ILGFGSFAVK AQWTEDCRKS TYPPSGPTVF
PAVIRYRGAV PWYTINLDLP PYKRWHELML DKAPVPGLLG NFPGPFEEEM KGIAAVTDIP
LGEIISFNIF YVLFTICTSI VAEDKKGHLI HGRNMDFGVF LGWNINNDTW VITEQLKPLT
VNLDFQRNNK TVFKASSFAG YVGMLTGFKP GLFSLTLNER FSINGGYLGI LEWILGKKDV
MWIGFLTRTV LENSTSYEEA KNLLTKTKIL APAYFILGGN QSGEGCVITR DRKESLDVYE
LDAKQGRWYV VQTNYDRWKH PFFLDDRRTP AKMCLNRTSQ ENISFETMYD VLSTKPVLNK
LTVYTTLIDV TKGQFETYLR DCPDPCIGW*

speed

0.37 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (explain)

Summary

known as potential disease variant: rs92 (probable pathogenic)
known disease mutation at this position (HGMD CM993321)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:17922010T>AN/A show variant in all transcripts IGV

HGNC symbol

ASAH1

Ensembl transcript ID

ENST00000520781

Genbank transcript ID

N/A

UniProt peptide

Q13510

alteration type

single base exchange

alteration region

intron

DNA changes

g.20485A>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.191	0.144
	4.578	0.998
(flanking)	5.531	1

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
Acc increased	20496	wt: 0.70 / mu: 0.90	wt: TTTTTTATGAATTATTTACCATTTGTACTTCAATAGTAGCA mu: TTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGCA	acca\|TTTG
Acc increased	20492	wt: 0.46 / mu: 0.87	wt: AATATTTTTTATGAATTATTTACCATTTGTACTTCAATAGT mu: AATATTTTTTATGTATTATTTACCATTTGTACTTCAATAGT	attt\|ACCA
Acc increased	20489	wt: 0.35 / mu: 0.91	wt: TTCAATATTTTTTATGAATTATTTACCATTTGTACTTCAAT mu: TTCAATATTTTTTATGTATTATTTACCATTTGTACTTCAAT	atta\|TTTA
Acc marginally increased	20483	wt: 0.9218 / mu: 0.9730 (marginal change - not scored)	wt: ATTTCATTCAATATTTTTTATGAATTATTTACCATTTGTAC mu: ATTTCATTCAATATTTTTTATGTATTATTTACCATTTGTAC	ttat\|GAAT
Acc increased	20481	wt: 0.41 / mu: 0.45	wt: TTATTTCATTCAATATTTTTTATGAATTATTTACCATTTGT mu: TTATTTCATTCAATATTTTTTATGTATTATTTACCATTTGT	tttt\|ATGA
Acc marginally increased	20476	wt: 0.5256 / mu: 0.5360 (marginal change - not scored)	wt: AGAGATTATTTCATTCAATATTTTTTATGAATTATTTACCA mu: AGAGATTATTTCATTCAATATTTTTTATGTATTATTTACCA	atat\|TTTT
Acc marginally increased	20478	wt: 0.4093 / mu: 0.4334 (marginal change - not scored)	wt: AGATTATTTCATTCAATATTTTTTATGAATTATTTACCATT mu: AGATTATTTCATTCAATATTTTTTATGTATTATTTACCATT	attt\|TTTA
Acc marginally increased	20485	wt: 0.9366 / mu: 0.9401 (marginal change - not scored)	wt: TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT mu: TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT	atga\|ATTA
Acc gained	20490	0.69	mu: TCAATATTTTTTATGTATTATTTACCATTTGTACTTCAATA	ttat\|TTAC
Acc gained	20495	0.43	mu: ATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGC	tacc\|ATTT
Acc gained	20494	0.44	mu: TATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAG	ttac\|CATT
Acc gained	20487	0.42	mu: CATTCAATATTTTTTATGTATTATTTACCATTTGTACTTCA	gtat\|TATT
Donor gained	20478	0.38	mu: ATATTTTTTATGTAT	ATTT\|ttta

distance from splice site

1271

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
155	155	CONFLICT	L -> P (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)
173	173	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
195	195	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
233	233	CONFLICT	Y -> N (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)
259	259	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
286	286	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
342	342	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
348	348	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
364	364	CONFLICT	L -> P (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

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

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

313 / 313

chromosome

strand

-1

last intron/exon boundary

1336

theoretical NMD boundary in CDS

973

length of CDS

1113

coding sequence (CDS) position

N/A

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

N/A

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

20485

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

17922010

original gDNA sequence snippet

TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT

altered gDNA sequence snippet

TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY TINLDLPPYK
RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK LPGLLGNFPG PFEEEMKGIA
AVTDIPLGHL IHGRNMDFGV FLGWNINNDT WVITEQLKPL TVNLDFQRNN KTVFKASSFA
GYVGMLTGFK PGLFSLTLNE RFSINGGYLG ILEWILGKKD VMWIGFLTRT VLENSTSYEE
AKNLLTKTKI LAPAYFILGG NQSGEGCVIT RDRKESLDVY ELDAKQGRWY VVQTNYDRWK
HPFFLDDRRT PAKMCLNRTS QENISFETMY DVLSTKPVLN KLTVYTTLID VTKGQFETYL
RDCPDPCIGW *

mutated AA sequence

N/A

speed

0.22 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (explain)

Summary

known as potential disease variant: rs92 (probable pathogenic)
known disease mutation at this position (HGMD CM993321)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:17922010T>AN/A show variant in all transcripts IGV

HGNC symbol

ASAH1

Ensembl transcript ID

ENST00000417108

Genbank transcript ID

N/A

UniProt peptide

Q13510

alteration type

single base exchange

alteration region

intron

DNA changes

g.20485A>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.191	0.144
	4.578	0.998
(flanking)	5.531	1

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
Acc increased	20496	wt: 0.70 / mu: 0.90	wt: TTTTTTATGAATTATTTACCATTTGTACTTCAATAGTAGCA mu: TTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGCA	acca\|TTTG
Acc increased	20492	wt: 0.46 / mu: 0.87	wt: AATATTTTTTATGAATTATTTACCATTTGTACTTCAATAGT mu: AATATTTTTTATGTATTATTTACCATTTGTACTTCAATAGT	attt\|ACCA
Acc increased	20489	wt: 0.35 / mu: 0.91	wt: TTCAATATTTTTTATGAATTATTTACCATTTGTACTTCAAT mu: TTCAATATTTTTTATGTATTATTTACCATTTGTACTTCAAT	atta\|TTTA
Acc marginally increased	20483	wt: 0.9218 / mu: 0.9730 (marginal change - not scored)	wt: ATTTCATTCAATATTTTTTATGAATTATTTACCATTTGTAC mu: ATTTCATTCAATATTTTTTATGTATTATTTACCATTTGTAC	ttat\|GAAT
Acc increased	20481	wt: 0.41 / mu: 0.45	wt: TTATTTCATTCAATATTTTTTATGAATTATTTACCATTTGT mu: TTATTTCATTCAATATTTTTTATGTATTATTTACCATTTGT	tttt\|ATGA
Acc marginally increased	20476	wt: 0.5256 / mu: 0.5360 (marginal change - not scored)	wt: AGAGATTATTTCATTCAATATTTTTTATGAATTATTTACCA mu: AGAGATTATTTCATTCAATATTTTTTATGTATTATTTACCA	atat\|TTTT
Acc marginally increased	20478	wt: 0.4093 / mu: 0.4334 (marginal change - not scored)	wt: AGATTATTTCATTCAATATTTTTTATGAATTATTTACCATT mu: AGATTATTTCATTCAATATTTTTTATGTATTATTTACCATT	attt\|TTTA
Acc marginally increased	20485	wt: 0.9366 / mu: 0.9401 (marginal change - not scored)	wt: TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT mu: TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT	atga\|ATTA
Acc gained	20490	0.69	mu: TCAATATTTTTTATGTATTATTTACCATTTGTACTTCAATA	ttat\|TTAC
Acc gained	20495	0.43	mu: ATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGC	tacc\|ATTT
Acc gained	20494	0.44	mu: TATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAG	ttac\|CATT
Acc gained	20487	0.42	mu: CATTCAATATTTTTTATGTATTATTTACCATTTGTACTTCA	gtat\|TATT
Donor gained	20478	0.38	mu: ATATTTTTTATGTAT	ATTT\|ttta

distance from splice site

1271

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
122	122	CONFLICT	V -> A (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)
155	155	CONFLICT	L -> P (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)
173	173	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
195	195	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
233	233	CONFLICT	Y -> N (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)
259	259	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
286	286	CARBOHYD	N-linked (GlcNAc...).	might get lost (downstream of altered splice site)
342	342	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
348	348	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
364	364	CONFLICT	L -> P (in Ref. 4; AAQ75550).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

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

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

232 / 232

chromosome

strand

-1

last intron/exon boundary

1060

theoretical NMD boundary in CDS

778

length of CDS

918

coding sequence (CDS) position

N/A

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

N/A

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

20485

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

17922010

original gDNA sequence snippet

TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT

altered gDNA sequence snippet

TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLDKAPVLKV IVNSLKNMIN TFVPSGKIMQ VVDEKLPGLL GNFPGPFEEE MKGIAAVTDI
PLGHLIHGRN MDFGVFLGWN INNDTWVITE QLKPLTVNLD FQRNNKTVFK ASSFAGYVGM
LTGFKPGLFS LTLNERFSIN GGYLGILEWI LGKKDVMWIG FLTRTVLENS TSYEEAKNLL
TKTKILAPAY FILGGNQSGE GCVITRDRKE SLDVYELDAK QGRWYVVQTN YDRWKHPFFL
DDRRTPAKMC LNRTSQENIS FETMYDVLST KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD
PCIGW*

mutated AA sequence

N/A

speed

0.22 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems