Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999980704767841 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM1611827)
  • known disease mutation at this position (HGMD CM962403)
  • known disease mutation: rs91 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17919233G>TN/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.665C>A
cDNA.977C>A
g.23262C>A
AA changes T222K Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 222
frameshift no
known variant Reference ID: rs137853593
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs91 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)

known disease mutation at this position, please check HGMD for details (HGMD ID CM1611827)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
known disease mutation at this position, please check HGMD for details (HGMD ID CM962403)
regulatory features ELF1, Transcription Factor, ELF1 Transcription Factor Binding
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7060.665
5.4180.957
(flanking)1.40.912
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased23263wt: 0.2706 / mu: 0.3381 (marginal change - not scored)wt: CTTACACTGAATGAA
mu: CTTAAACTGAATGAA		 TACA|ctga
Donor marginally increased23267wt: 0.2087 / mu: 0.2358 (marginal change - not scored)wt: CACTGAATGAACGTT
mu: AACTGAATGAACGTT		 CTGA|atga
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      222LTGFKPGLFSLTLNERFSINGGYL
mutated  not conserved    222LTGFKPGLFSLKLNERFSINGGY
Ptroglodytes  all conserved  ENSPTRG00000020027  222LTGFKPGLFSLSLNERFSINGGY
Mmulatta  all identical  ENSMMUG00000015497  238LTGFKPGLFSLTLNERFSVNGGY
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000031591  221LTGFKPGLFSLSLNERFSINGGY
Ggallus  all identical  ENSGALG00000013599  220VSGVKPDLFTLTMNERFSLDGGY
Trubripes  all identical  ENSTRUG00000016165  228LTGIKPHTFTLTMNERFSLDGGY
Drerio  all identical  ENSDARG00000037091  217LTGIRPGELTLTMNERFDFDGGY
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  219YNGLKPNAFSLTADDRFQLVGGY
Xtropicalis  all identical  ENSXETG00000012463  224LTGMKPGVFSLTMNERFSVDGGF
protein features no protein features affected
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 8
strand -1
last intron/exon boundary 1411
theoretical NMD boundary in CDS 1048
length of CDS 1188
coding sequence (CDS) position 665
cDNA position
(for ins/del: last normal base / first normal base)		 977
gDNA position
(for ins/del: last normal base / first normal base)		 23262
chromosomal position
(for ins/del: last normal base / first normal base)		 17919233
original gDNA sequence snippet TCAGGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered gDNA sequence snippet TCAGGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
original cDNA sequence snippet ACCAGGACTGTTCAGTCTTACACTGAATGAACGTTTCAGTA
altered cDNA sequence snippet ACCAGGACTGTTCAGTCTTAAACTGAATGAACGTTTCAGTA
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
QLKPLTVNLD FQRNNKTVFK ASSFAGYVGM LTGFKPGLFS LKLNERFSIN GGYLGILEWI
LGKKDVMWIG FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE
SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS FETMYDVLST
KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW*
speed 0.93 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