Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999183087      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs92 (probable pathogenic)
  • known disease mutation at this position (HGMD CM993321)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17922010T>AN/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.395A>T
cDNA.579A>T
g.20485A>T
AA changes E132V Score: 121 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 132
frameshift no
known variant Reference ID: rs137853594
Allele 'A' was neither found in ExAC nor 1000G.
known as potential disease variant: rs92 (probable pathogenic for Farber disease|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993321)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993321)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993321)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1910.144
4.5780.998
(flanking)5.5311
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20492wt: 0.46 / mu: 0.87wt: AATATTTTTTATGAATTATTTACCATTTGTACTTCAATAGT
mu: AATATTTTTTATGTATTATTTACCATTTGTACTTCAATAGT		 attt|ACCA
Acc marginally increased20478wt: 0.4093 / mu: 0.4334 (marginal change - not scored)wt: AGATTATTTCATTCAATATTTTTTATGAATTATTTACCATT
mu: AGATTATTTCATTCAATATTTTTTATGTATTATTTACCATT		 attt|TTTA
Acc increased20496wt: 0.70 / mu: 0.90wt: TTTTTTATGAATTATTTACCATTTGTACTTCAATAGTAGCA
mu: TTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGCA		 acca|TTTG
Acc marginally increased20485wt: 0.9366 / mu: 0.9401 (marginal change - not scored)wt: TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT
mu: TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT		 atga|ATTA
Acc increased20489wt: 0.35 / mu: 0.91wt: TTCAATATTTTTTATGAATTATTTACCATTTGTACTTCAAT
mu: TTCAATATTTTTTATGTATTATTTACCATTTGTACTTCAAT		 atta|TTTA
Acc marginally increased20483wt: 0.9218 / mu: 0.9730 (marginal change - not scored)wt: ATTTCATTCAATATTTTTTATGAATTATTTACCATTTGTAC
mu: ATTTCATTCAATATTTTTTATGTATTATTTACCATTTGTAC		 ttat|GAAT
Acc increased20481wt: 0.41 / mu: 0.45wt: TTATTTCATTCAATATTTTTTATGAATTATTTACCATTTGT
mu: TTATTTCATTCAATATTTTTTATGTATTATTTACCATTTGT		 tttt|ATGA
Acc marginally increased20476wt: 0.5256 / mu: 0.5360 (marginal change - not scored)wt: AGAGATTATTTCATTCAATATTTTTTATGAATTATTTACCA
mu: AGAGATTATTTCATTCAATATTTTTTATGTATTATTTACCA		 atat|TTTT
Acc gained204870.42mu: CATTCAATATTTTTTATGTATTATTTACCATTTGTACTTCA gtat|TATT
Acc gained204900.69mu: TCAATATTTTTTATGTATTATTTACCATTTGTACTTCAATA ttat|TTAC
Acc gained204950.43mu: ATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAGC tacc|ATTT
Acc gained204940.44mu: TATTTTTTATGTATTATTTACCATTTGTACTTCAATAGTAG ttac|CATT
Donor gained204780.38mu: ATATTTTTTATGTAT ATTT|ttta
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      132LGEIISFNIFYELFTICTSIVAED
mutated  not conserved    132LGEIISFNIFYVLFTICTSIVAE
Ptroglodytes  all identical  ENSPTRG00000020027  116LGEIISFNIFYEL
Mmulatta  all identical  ENSMMUG00000015497  150LGEIISYNIFYEFFTLCTSIVAE
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  116LGEIISFNIFYEL
Ggallus  all identical  ENSGALG00000013599  119LGEIVIFNIFYEIFT
Trubripes  all identical  ENSTRUG00000016165  144LGEVVLFNIFYEVFTVCTSIVAE
Drerio  all identical  ENSDARG00000037091  133FYEVFTVCTSLVAE
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  133LGQITMYNIFYEIFTVCTSVIAQ
Xtropicalis  all identical  ENSXETG00000012463  121LGEVMLFNIFYEV
protein features
start (aa)end (aa)featuredetails 
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 395
cDNA position
(for ins/del: last normal base / first normal base)		 579
gDNA position
(for ins/del: last normal base / first normal base)		 20485
chromosomal position
(for ins/del: last normal base / first normal base)		 17922010
original gDNA sequence snippet TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT
altered gDNA sequence snippet TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT
original cDNA sequence snippet TTCATTCAATATTTTTTATGAATTATTTACCATTTGTACTT
altered cDNA sequence snippet TTCATTCAATATTTTTTATGTATTATTTACCATTTGTACTT
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 TYPPSGPTVF
PAVIRYRGAV PWYTINLDLP PYKRWHELML DKAPVPGLLG NFPGPFEEEM KGIAAVTDIP
LGEIISFNIF YVLFTICTSI 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 1.25 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