Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999828482 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940124)
  • known disease mutation: rs2607 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3402354C>AN/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.914C>A
cDNA.1062C>A
g.26687C>A
AA changes A305E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 305
frameshift no
known variant Reference ID: rs28940574
databasehomozygous (A/A)heterozygousallele carriers
1000G022
ExAC02727

known disease mutation: rs2607 (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 CM940124)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940124)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940124)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.3390.998
5.3390.998
(flanking)0.3490.486
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 increased26687wt: 0.9761 / mu: 0.9936 (marginal change - not scored)wt: CAATGCAAAAAGTAT
mu: CAATGAAAAAAGTAT		 ATGC|aaaa
Donor increased26684wt: 0.42 / mu: 0.54wt: GCTCAATGCAAAAAG
mu: GCTCAATGAAAAAAG		 TCAA|tgca
Donor gained266830.68mu: CGCTCAATGAAAAAA CTCA|atga
distance from splice site 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      305AFAKTTKLTLNAKSIRCCLH*
mutated  not conserved    305LTLNEKSIRCCLH
Ptroglodytes  all identical  ENSPTRG00000008568  305LTLNAKSIRCCLH
Mmulatta  all identical  ENSMMUG00000030388  305LMLNAKSIRCSVH
Fcatus  all identical  ENSFCAG00000007919  305KATKLTLNARSIRSSL
Mmusculus  all identical  ENSMUSG00000020774  304LTLSAKSIRSTLH
Ggallus  all identical  ENSGALG00000004669  306KMELTAGHIR
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000005154  307AFVTTCREILAANAI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000005789  304AFTTTQKMTLCAQAIRC
protein features
start (aa)end (aa)featuredetails 
294305STRANDlost
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 914
cDNA position
(for ins/del: last normal base / first normal base)		 1062
gDNA position
(for ins/del: last normal base / first normal base)		 26687
chromosomal position
(for ins/del: last normal base / first normal base)		 3402354
original gDNA sequence snippet AACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTT
altered gDNA sequence snippet AACTAAACTAACGCTCAATGAAAAAAGTATTCGCTGCTGTT
original cDNA sequence snippet AACTAAACTAACGCTCAATGCAAAAAGTATTCGCTGCTGTT
altered cDNA sequence snippet AACTAAACTAACGCTCAATGAAAAAAGTATTCGCTGCTGTT
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 VFVNEAAYYE KKEAFAKTTK
LTLNEKSIRC CLH*
speed 0.97 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