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mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1      (explain)
Summary
  • known as potential disease variant: rs93 (probable pathogenic)
  • known disease mutation at this position (HGMD CM010154)
  • protein features (might be) affected
  • splice site changes
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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 ENST00000417108
Genbank transcript ID N/A
UniProt peptide Q13510
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.143A>G
g.9427A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 splice site change before start ATG (at aa -25) |
effectgDNA positionscoredetection 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? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
121SIGNALPotential.might get lost (downstream of altered splice site)
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 N/A
cDNA position
(for ins/del: last normal base / first normal base)		 143
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 GGACTGCAGAAAATCAACCTATCCTCCTTCAGGACCAACGT
altered cDNA sequence snippet GGACTGCAGAAAATCAACCTGTCCTCCTTCAGGACCAACGT
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 N/A
speed 0.33 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