Yum, tasty mutations...

mutation t@sting

 documentation

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 ENST00000417108
Genbank transcript ID N/A
UniProt peptide Q13510
alteration type single base exchange
alteration region CDS
DNA changes c.274C>G
cDNA.505C>G
g.22603C>G
AA changes L92V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 92
frameshift no
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
PhyloPPhastCons
(flanking)4.6120.982
2.9430.979
(flanking)-0.3240.465
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased22597wt: 0.37 / mu: 0.97wt: TAACTGAGCAACTAA
mu: TAACTGAGCAAGTAA		 ACTG|agca
Donor marginally increased22602wt: 0.9510 / mu: 0.9978 (marginal change - not scored)wt: GAGCAACTAAAACCT
mu: GAGCAAGTAAAACCT		 GCAA|ctaa
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      92INNDTWVITEQLKPLTVNLDFQRN
mutated  all conserved    92INNDTWVITEQVKPLTVNLDFQR
Ptroglodytes  all identical  ENSPTRG00000020027  157INNDTWVITEQLKPL
Mmulatta  all identical  ENSMMUG00000015497  173INNDTWVITEELKPL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  156INNNTWVVTEELKPL
Ggallus  all identical  ENSGALG00000013599  157VKNNSWTVTRELKPTVVNLD
Trubripes  all identical  ENSTRUG00000016165  163VKNKSWIISEKLKPLVV
Drerio  all identical  ENSDARG00000037091  152RQNKTWTLTEKLKPLVV
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  161PVLHDWQISQKLRKMIINVNWLK
Xtropicalis  all identical  ENSXETG00000012463  159VKNNSWMVTQLLRPLVV
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 918 / 918
position (AA) of stopcodon in wt / mu AA sequence 306 / 306
position of stopcodon in wt / mu cDNA 1149 / 1149
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 8
strand -1
last intron/exon boundary 1060
theoretical NMD boundary in CDS 778
length of CDS 918
coding sequence (CDS) position 274
cDNA position
(for ins/del: last normal base / first normal base)		 505
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 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 MLDKAPVLKV IVNSLKNMIN TFVPSGKIMQ VVDEKLPGLL GNFPGPFEEE MKGIAAVTDI
PLGHLIHGRN 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 1.62 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