Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999616636903      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs93 (probable pathogenic)
  • known disease mutation at this position (HGMD CM010154)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17933068T>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.155A>G
cDNA.322A>G
g.9427A>G
AA changes Y52C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 52
frameshift no
known variant Reference ID: rs137853595
Allele 'C' was neither found in ExAC nor 1000G.
known as potential disease variant: rs93 (probable pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010154)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0150.998
2.5581
(flanking)2.5581
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased9438wt: 0.9787 / mu: 0.9800 (marginal change - not scored)wt: AATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACATC
mu: AATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACATC		 tcag|GACC
Acc increased9436wt: 0.34 / mu: 0.38wt: AAAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACA
mu: AAAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACA		 cttc|AGGA
Acc marginally increased9437wt: 0.9432 / mu: 0.9519 (marginal change - not scored)wt: AAATCAACCTATCCTCCTTCAGGACCAACGTGAGTAAACAT
mu: AAATCAACCTGTCCTCCTTCAGGACCAACGTGAGTAAACAT		 ttca|GGAC
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      52AQWTEDCRKSTYPPSGPTYRGAVP
mutated  not conserved    52AQWTEDCRKSTCPPSGPTYR
Ptroglodytes  all identical  ENSPTRG00000020027  36WTEDCRKSTYPPSGPTYRGPV
Mmulatta  all identical  ENSMMUG00000015497  52AQWTEDCRKSTYPPSGPTYR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  35WTEDCRKSTYPPSGPTYRGPV
Ggallus  all identical  ENSGALG00000013599  36EDCRSKMYPPSGPTFKGNV
Trubripes  all identical  ENSTRUG00000016165  48PPYTEECRANMYPPKGPTFNGAV
Drerio  all identical  ENSDARG00000037091  32VQGLEDCRSGMYPPKGPTYRGNV
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  38DDKQNLYDPSK---QFDI
Xtropicalis  all identical  ENSXETG00000012463  38YTEDCRSGTYPPTGPTFKGNI
protein features
start (aa)end (aa)featuredetails 
122122CONFLICTV -> A (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
155155CONFLICTL -> P (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
173173CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
195195CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
233233CONFLICTY -> N (in Ref. 4; AAQ75550).might get lost (downstream of altered splice site)
259259CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
286286CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
342342CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
348348CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
364364CONFLICTL -> 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 8
strand -1
last intron/exon boundary 1314
theoretical NMD boundary in CDS 1096
length of CDS 1236
coding sequence (CDS) position 155
cDNA position
(for ins/del: last normal base / first normal base)		 322
gDNA position
(for ins/del: last normal base / first normal base)		 9427
chromosomal position
(for ins/del: last normal base / first normal base)		 17933068
original gDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered gDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
original cDNA sequence snippet GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered cDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
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 TCPPSGPTYR
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*
speed 0.46 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