mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999999514728929 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM063845)
known disease mutation: rs95 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr8:17919892G>CN/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.592C>G
cDNA.759C>G
g.22603C>G

AA changes

L198V Score: 32 explain score(s)

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

198

frameshift

known variant

Reference ID: rs137853597
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs95 (pathogenic for Farber disease) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM063845)

known disease mutation at this position, please check HGMD for details (HGMD ID CM063845)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063845)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.612	0.982
	2.943	0.979
(flanking)	-0.324	0.465

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 increased	22597	wt: 0.37 / mu: 0.97	wt: TAACTGAGCAACTAA mu: TAACTGAGCAAGTAA	ACTG\|agca
Donor marginally increased	22602	wt: 0.9510 / mu: 0.9978 (marginal change - not scored)	wt: GAGCAACTAAAACCT mu: GAGCAAGTAAAACCT	GCAA\|ctaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

198

mutated

all conserved

198

Ptroglodytes

all identical

ENSPTRG00000020027

182

Mmulatta

all identical

ENSMMUG00000015497

198

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000031591

181

Ggallus

all identical

ENSGALG00000013599

182

Trubripes

all identical

ENSTRUG00000016165

188

Drerio

all identical

ENSDARG00000037091

177

Dmelanogaster

no homologue

Celegans

all identical

K11D2.2

179

Xtropicalis

all identical

ENSXETG00000012463

184

protein features

start (aa)	end (aa)	feature	details
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

592

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

759

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

22603

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

17919892

original gDNA sequence snippet

CCTGGGTCATAACTGAGCAACTAAAACCTTTAACAGTGAAT

altered gDNA sequence snippet

CCTGGGTCATAACTGAGCAAGTAAAACCTTTAACAGTGAAT

original cDNA sequence snippet

CCTGGGTCATAACTGAGCAACTAAAACCTTTAACAGTGAAT

altered cDNA sequence snippet

CCTGGGTCATAACTGAGCAAGTAAAACCTTTAACAGTGAAT

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 IFYELFTICT SIVAEDKKGH LIHGRNMDFG
VFLGWNINND TWVITEQVKP LTVNLDFQRN NKTVFKASSF AGYVGMLTGF KPGLFSLTLN
ERFSINGGYL GILEWILGKK DVMWIGFLTR TVLENSTSYE EAKNLLTKTK ILAPAYFILG
GNQSGEGCVI TRDRKESLDV YELDAKQGRW YVVQTNYDRW KHPFFLDDRR TPAKMCLNRT
SQENISFETM YDVLSTKPVL NKLTVYTTLI DVTKGQFETY LRDCPDPCIG W*

speed

0.80 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