Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999816 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM023015)
  • known disease mutation: rs2615 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:3402186A>TN/A show variant in all transcripts   IGV
HGNC symbol ASPA
Ensembl transcript ID ENST00000263080
Genbank transcript ID NM_000049
UniProt peptide P45381
alteration type single base exchange
alteration region CDS
DNA changes c.746A>T
cDNA.904A>T
g.26519A>T
AA changes D249V Score: 152 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 249
frameshift no
known variant Reference ID: rs104894552
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC01515

known disease mutation: rs2615 (pathogenic for Spongy degeneration of central nervous system) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM023015)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023015)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023015)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.6511
4.6821
(flanking)2.171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Acceptor lost26517sequence motif lost- wt: agag|GATC
 mu: agag.GTTC
Acc marginally increased26512wt: 0.8284 / mu: 0.8375 (marginal change - not scored)wt: TATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAA
mu: TATTTATTTTGATTGTTTCCTGAGAGGTTCAAGACTGGAAA		 tcct|GAGA
Acc marginally increased26511wt: 0.6064 / mu: 0.6434 (marginal change - not scored)wt: ATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAA
mu: ATATTTATTTTGATTGTTTCCTGAGAGGTTCAAGACTGGAA		 ttcc|TGAG
Acc marginally increased26510wt: 0.7562 / mu: 0.7921 (marginal change - not scored)wt: TATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGA
mu: TATATTTATTTTGATTGTTTCCTGAGAGGTTCAAGACTGGA		 tttc|CTGA
Acc marginally increased26513wt: 0.9195 / mu: 0.9254 (marginal change - not scored)wt: ATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAAC
mu: ATTTATTTTGATTGTTTCCTGAGAGGTTCAAGACTGGAAAC		 cctg|AGAG
Acc marginally increased26509wt: 0.8168 / mu: 0.8441 (marginal change - not scored)wt: ATATATTTATTTTGATTGTTTCCTGAGAGGATCAAGACTGG
mu: ATATATTTATTTTGATTGTTTCCTGAGAGGTTCAAGACTGG		 gttt|CCTG
Acc increased26516wt: 0.58 / mu: 0.66wt: TATTTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCAC
mu: TATTTTGATTGTTTCCTGAGAGGTTCAAGACTGGAAACCAC		 gaga|GGAT
Donor marginally increased26512wt: 0.9410 / mu: 0.9756 (marginal change - not scored)wt: TTTCCTGAGAGGATC
mu: TTTCCTGAGAGGTTC		 TCCT|gaga
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      249EIAAIIHPNLQDQDWKPLHPGDPM
mutated  not conserved    249AIIHPNLQVQDWKPLHPGDP
Ptroglodytes  all identical  ENSPTRG00000008568  249AIIHPNLQDQDWKPLHPGDP
Mmulatta  all identical  ENSMMUG00000030388  249AVIHPNLQDQDWKPLHPGDP
Fcatus  all identical  ENSFCAG00000007919  249DIAAIIHPNLQDQDWKPLHPRDP
Mmusculus  all identical  ENSMUSG00000020774  248AVIHPNLQDQDWKPLHPGDP
Ggallus  all identical  ENSGALG00000004669  250IAIIHPNLQDQDWQPLNNGDP
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000005154  251DCDWEPLNRGDP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000005789  248DCTAIIHNNLQDQDWKELKPGDP
protein features
start (aa)end (aa)featuredetails 
245249TURNlost
259263STRANDmight get lost (downstream of altered splice site)
269271STRANDmight get lost (downstream of altered splice site)
274276STRANDmight get lost (downstream of altered splice site)
278282STRANDmight get lost (downstream of altered splice site)
285285MUTAGENE->D: 5-fold decrease in activity.might get lost (downstream of altered splice site)
286288HELIXmight get lost (downstream of altered splice site)
288288BINDINGSubstrate.might get lost (downstream of altered splice site)
288288MUTAGENY->F: Reduces activity by 99%.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 1100 / 1100
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 159 / 159
chromosome 17
strand 1
last intron/exon boundary 903
theoretical NMD boundary in CDS 694
length of CDS 942
coding sequence (CDS) position 746
cDNA position
(for ins/del: last normal base / first normal base)		 904
gDNA position
(for ins/del: last normal base / first normal base)		 26519
chromosomal position
(for ins/del: last normal base / first normal base)		 3402186
original gDNA sequence snippet TTTGATTGTTTCCTGAGAGGATCAAGACTGGAAACCACTGC
altered gDNA sequence snippet TTTGATTGTTTCCTGAGAGGTTCAAGACTGGAAACCACTGC
original cDNA sequence snippet CATCCATCCTAATCTGCAGGATCAAGACTGGAAACCACTGC
altered cDNA sequence snippet CATCCATCCTAATCTGCAGGTTCAAGACTGGAAACCACTGC
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
AIIHPNLQVQ DWKPLHPGDP MFLTLDGKTI PLGGDCTVYP VFVNEAAYYE KKEAFAKTTK
LTLNAKSIRC CLH*
speed 0.96 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