Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999992355740153      (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 ENST00000314146
Genbank transcript ID NM_001127505
UniProt peptide Q13510
alteration type single base exchange
alteration region CDS
DNA changes c.155A>G
cDNA.339A>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      52AQWTEDCRKSTYPPSGPTVFPAVI
mutated  not conserved    52AQWTEDCRKSTCPPSGPTVF
Ptroglodytes  all identical  ENSPTRG00000020027  36WTEDCRKSTYPPSGPT-----
Mmulatta  all identical  ENSMMUG00000015497  52AQWTEDCRKSTYPPSGPT--
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  35WTEDCRKSTYPPSGPT-----
Ggallus  all identical  ENSGALG00000013599  36EDCRSKMYPPSGPT-----
Trubripes  all identical  ENSTRUG00000016165  48PPYTEECRANMYPPKGPT-----
Drerio  all identical  ENSDARG00000037091  32VQGLEDCRSGMYPPKGPT-----
Dmelanogaster  no homologue    
Celegans  no alignment  K11D2.2  n/a
Xtropicalis  all identical  ENSXETG00000012463  38YTEDCRSGTYPPTGPT-----
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 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 8
strand -1
last intron/exon boundary 1265
theoretical NMD boundary in CDS 1030
length of CDS 1170
coding sequence (CDS) position 155
cDNA position
(for ins/del: last normal base / first normal base)		 339
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 GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACTG
altered cDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACTG
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 TCPPSGPTVF
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*
speed 0.13 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