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

ENST00000262097

Genbank transcript ID

NM_177924

UniProt peptide

Q13510

alteration type

single base exchange

alteration region

CDS

DNA changes

c.544C>G
cDNA.856C>G
g.22603C>G

AA changes

L182V Score: 32 explain score(s)

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

182

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

182

mutated

all conserved

182

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
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

544

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

856

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

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 ISFNIFYELF TICTSIVAED KKGHLIHGRN MDFGVFLGWN INNDTWVITE
QVKPLTVNLD FQRNNKTVFK ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI
LGKKDVMWIG FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE
SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS FETMYDVLST
KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW*

speed

0.59 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