Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999998699729 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM010155)
  • known disease mutation: rs94 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:17916933T>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.940A>G
cDNA.1124A>G
g.25562A>G
AA changes N314D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 314
frameshift no
known variant Reference ID: rs137853596
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs94 (pathogenic for Farber disease) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010155)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.71
4.70.998
(flanking)-1.8010.11
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained255610.35mu: CAAACAGATTATGAC AACA|gatt
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      314AKQGRWYVVQTNYDRWKHPFFLDD
mutated  all conserved    314AKQGRWYVVQTDYDRWKHPFFLD
Ptroglodytes  all identical  ENSPTRG00000020027  320NYDRWKHPFFLD
Mmulatta  all identical  ENSMMUG00000015497  336AKQGRWYVVQTNYDRWKNPFFLD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031591  319NYDRWKNTLFID
Ggallus  all identical  ENSGALG00000013599  318IKKGTWYVIETNYDRWKPPLVLD
Trubripes  all identical  ENSTRUG00000016165  326LKLGRWYVLETNYDHWKEPLFLD
Drerio  all identical  ENSDARG00000037091  315VLETNYDHWDKPMFLD
Dmelanogaster  no homologue    
Celegans  all identical  K11D2.2  318TSPHGWYLLETNYDQGTEDLYLD
Xtropicalis  all identical  ENSXETG00000012463  324ETNYDRWKAPLPID
protein features
start (aa)end (aa)featuredetails 
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 940
cDNA position
(for ins/del: last normal base / first normal base)		 1124
gDNA position
(for ins/del: last normal base / first normal base)		 25562
chromosomal position
(for ins/del: last normal base / first normal base)		 17916933
original gDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered gDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
original cDNA sequence snippet GATGGTATGTGGTACAAACAAATTATGACCGTTGGAAACAT
altered cDNA sequence snippet GATGGTATGTGGTACAAACAGATTATGACCGTTGGAAACAT
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 YELFTICTSI VAEDKKGHLI HGRNMDFGVF LGWNINNDTW VITEQLKPLT
VNLDFQRNNK TVFKASSFAG YVGMLTGFKP GLFSLTLNER FSINGGYLGI LEWILGKKDV
MWIGFLTRTV LENSTSYEEA KNLLTKTKIL APAYFILGGN QSGEGCVITR DRKESLDVYE
LDAKQGRWYV VQTDYDRWKH PFFLDDRRTP AKMCLNRTSQ ENISFETMYD VLSTKPVLNK
LTVYTTLIDV TKGQFETYLR DCPDPCIGW*
speed 1.39 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