Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999013949643 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM930046)
  • known disease mutation: rs2605 (pathogenic)
  • protein features (might be) affected
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3402294A>CN/A show variant in all transcripts   IGV
HGNC symbol ASPA
Ensembl transcript ID ENST00000456349
Genbank transcript ID N/A
UniProt peptide P45381
alteration type single base exchange
alteration region CDS
DNA changes c.854A>C
cDNA.1002A>C
g.26627A>C
AA changes E285A Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 285
frameshift no
known variant Reference ID: rs28940279
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC04343

known disease mutation: rs2605 (pathogenic for Spongy degeneration of central nervous system|Canavan Disease, Familial Form|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM930046)

known disease mutation at this position, please check HGMD for details (HGMD ID CM930046)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930046)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.6511
3.171
(flanking)0.6681
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 increased26621wt: 0.3400 / mu: 0.3624 (marginal change - not scored)wt: TACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACG
mu: TACCGTGTACCCCGTGTTTGTGAATGCGGCCGCATATTACG		 ttgt|GAAT
Acc marginally increased26623wt: 0.9170 / mu: 0.9317 (marginal change - not scored)wt: CCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAA
mu: CCGTGTACCCCGTGTTTGTGAATGCGGCCGCATATTACGAA		 gtga|ATGA
Acc increased26619wt: 0.64 / mu: 0.72wt: TGTACCGTGTACCCCGTGTTTGTGAATGAGGCCGCATATTA
mu: TGTACCGTGTACCCCGTGTTTGTGAATGCGGCCGCATATTA		 gttt|GTGA
distance from splice site 89
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      285GDCTVYPVFVNEAAYYEKKEAFAK
mutated  not conserved    285GDCTVYPVFVNAAAYYEKKEAFA
Ptroglodytes  all identical  ENSPTRG00000008568  285GDCTVYPVFVNEAAYYEKKEAFA
Mmulatta  all identical  ENSMMUG00000030388  285GDCIVYPVFVNEAAYYEKKEAFA
Fcatus  all identical  ENSFCAG00000007919  285GGSTVYPVFVNEAAYYEKKEAFA
Mmusculus  all identical  ENSMUSG00000020774  284GDCTVYPVFVNEAAYYEKKEAFA
Ggallus  all identical  ENSGALG00000004669  286GDCTAYPTFINEAAYYEKKQAFV
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000005154  287GANTVYPTFINEAAYYEKQQAFV
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000005789  284GDCIVYPTFINEAAYYEKNQAFT
protein features
start (aa)end (aa)featuredetails 
278282STRANDmight get lost (downstream of altered splice site)
285285MUTAGENE->D: 5-fold decrease in activity.lost
286288HELIXmight get lost (downstream of altered splice site)
288288MUTAGENY->F: Reduces activity by 99%.might get lost (downstream of altered splice site)
288288BINDINGSubstrate.might get lost (downstream of altered splice site)
289292TURNmight get lost (downstream of altered splice site)
294305STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 942 / 942
position (AA) of stopcodon in wt / mu AA sequence 314 / 314
position of stopcodon in wt / mu cDNA 1090 / 1090
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 149 / 149
chromosome 17
strand 1
last intron/exon boundary 893
theoretical NMD boundary in CDS 694
length of CDS 942
coding sequence (CDS) position 854
cDNA position
(for ins/del: last normal base / first normal base)		 1002
gDNA position
(for ins/del: last normal base / first normal base)		 26627
chromosomal position
(for ins/del: last normal base / first normal base)		 3402294
original gDNA sequence snippet GTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGA
altered gDNA sequence snippet GTACCCCGTGTTTGTGAATGCGGCCGCATATTACGAAAAGA
original cDNA sequence snippet GTACCCCGTGTTTGTGAATGAGGCCGCATATTACGAAAAGA
altered cDNA sequence snippet GTACCCCGTGTTTGTGAATGCGGCCGCATATTACGAAAAGA
wildtype AA sequence MTSCHIAEEH IQKVAIFGGT HGNELTGVFL VKHWLENGAE IQRTGLEVKP FITNPRAVKK
CTRYIDCDLN RIFDLENLGK KMSEDLPYEV RRAQEINHLF GPKDSEDSYD IIFDLHNTTS
NMGCTLILED SRNNFLIQMF HYIKTSLAPL PCYVYLIEHP SLKYATTRSI AKYPVGIEVG
PQPQGVLRAD ILDQMRKMIK HALDFIHHFN EGKEFPPCAI EVYKIIEKVD YPRDENGEIA
AIIHPNLQDQ DWKPLHPGDP MFLTLDGKTI PLGGDCTVYP VFVNEAAYYE KKEAFAKTTK
LTLNAKSIRC CLH*
mutated AA sequence MTSCHIAEEH IQKVAIFGGT HGNELTGVFL VKHWLENGAE IQRTGLEVKP FITNPRAVKK
CTRYIDCDLN RIFDLENLGK KMSEDLPYEV RRAQEINHLF GPKDSEDSYD IIFDLHNTTS
NMGCTLILED SRNNFLIQMF HYIKTSLAPL PCYVYLIEHP SLKYATTRSI AKYPVGIEVG
PQPQGVLRAD ILDQMRKMIK HALDFIHHFN EGKEFPPCAI EVYKIIEKVD YPRDENGEIA
AIIHPNLQDQ DWKPLHPGDP MFLTLDGKTI PLGGDCTVYP VFVNAAAYYE KKEAFAKTTK
LTLNAKSIRC CLH*
speed 0.79 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