Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999815624019 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM081192)
  • known disease mutation: rs3637 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:227153420C>TN/A show variant in all transcripts   IGV
HGNC symbol COQ8A
Ensembl transcript ID ENST00000366777
Genbank transcript ID NM_020247
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.637C>T
cDNA.758C>T
g.68184C>T
AA changes R213W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 213
frameshift no
known variant Reference ID: rs119468005
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs3637 (pathogenic for Coenzyme Q10 deficiency, primary, 4) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM081192)

known disease mutation at this position, please check HGMD for details (HGMD ID CM081192)
known disease mutation at this position, please check HGMD for details (HGMD ID CM081192)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0440.995
1.8031
(flanking)4.6991
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      213RERKVPVTRIGRLANFGGLAVGLG
mutated  not conserved    213RERKVPVTRIGWLANFGGLAVGL
Ptroglodytes  all identical  ENSPTRG00000033741  213RERKVPVTRIGRLANFGGLAVGL
Mmulatta  all identical  ENSMMUG00000008636  213RERKVPVTRIGRLANFGGLAVGL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026489  210RERKVPVTRIGRLANFGGLAVGL
Ggallus  all identical  ENSGALG00000009082  216RERKVPVTRIGRLANFGGLAVGL
Trubripes  all identical  ENSTRUG00000014182  42RERKVPVTRLSRLANFGGLALGL
Drerio  all identical  ENSDARG00000020123  182RERKVPVTRLGRLANFGGLAVGL
Dmelanogaster  all identical  FBgn0052649  231KQRKVPSSRIGRMASFGGLFAGL
Celegans  all identical  C35D10.4  305NESSVPATRIGRLATFGQLAFGL
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1944 / 1944
position (AA) of stopcodon in wt / mu AA sequence 648 / 648
position of stopcodon in wt / mu cDNA 2065 / 2065
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 122 / 122
chromosome 1
strand 1
last intron/exon boundary 1781
theoretical NMD boundary in CDS 1609
length of CDS 1944
coding sequence (CDS) position 637
cDNA position
(for ins/del: last normal base / first normal base)		 758
gDNA position
(for ins/del: last normal base / first normal base)		 68184
chromosomal position
(for ins/del: last normal base / first normal base)		 227153420
original gDNA sequence snippet TGCCTGTGACGAGGATTGGCCGGCTGGCCAACTTCGGAGGT
altered gDNA sequence snippet TGCCTGTGACGAGGATTGGCTGGCTGGCCAACTTCGGAGGT
original cDNA sequence snippet TGCCTGTGACGAGGATTGGCCGGCTGGCCAACTTCGGAGGT
altered cDNA sequence snippet TGCCTGTGACGAGGATTGGCTGGCTGGCCAACTTCGGAGGT
wildtype AA sequence MAAILGDTIM VAKGLVKLTQ AAVETHLQHL GIGGELIMAA RALQSTAVEQ IGMFLGKVQG
QDKHEEYFAE NFGGPEGEFH FSVPHAAGAS TDFSSASAPD QSAPPSLGHA HSEGPAPAYV
ASGPFREAGF PGQASSPLGR ANGRLFANPR DSFSAMGFQR RFFHQDQSPV GGLTAEDIEK
ARQAKARPEN KQHKQTLSEH ARERKVPVTR IGRLANFGGL AVGLGFGALA EVAKKSLRSE
DPSGKKAVLG SSPFLSEANA ERIVRTLCKV RGAALKLGQM LSIQDDAFIN PHLAKIFERV
RQSADFMPLK QMMKTLNNDL GPNWRDKLEY FEERPFAAAS IGQVHLARMK GGREVAMKIQ
YPGVAQSINS DVNNLMAVLN MSNMLPEGLF PEHLIDVLRR ELALECDYQR EAACARKFRD
LLKGHPFFYV PEIVDELCSP HVLTTELVSG FPLDQAEGLS QEIRNEICYN ILVLCLRELF
EFHFMQTDPN WSNFFYDPQQ HKVALLDFGA TREYDRSFTD LYIQIIRAAA DRDRETVRAK
SIEMKFLTGY EVKVMEDAHL DAILILGEAF ASDEPFDFGT QSTTEKIHNL IPVMLRHRLV
PPPEETYSLH RKMGGSFLIC SKLKARFPCK AMFEEAYSNY CKRQAQQ*
mutated AA sequence MAAILGDTIM VAKGLVKLTQ AAVETHLQHL GIGGELIMAA RALQSTAVEQ IGMFLGKVQG
QDKHEEYFAE NFGGPEGEFH FSVPHAAGAS TDFSSASAPD QSAPPSLGHA HSEGPAPAYV
ASGPFREAGF PGQASSPLGR ANGRLFANPR DSFSAMGFQR RFFHQDQSPV GGLTAEDIEK
ARQAKARPEN KQHKQTLSEH ARERKVPVTR IGWLANFGGL AVGLGFGALA EVAKKSLRSE
DPSGKKAVLG SSPFLSEANA ERIVRTLCKV RGAALKLGQM LSIQDDAFIN PHLAKIFERV
RQSADFMPLK QMMKTLNNDL GPNWRDKLEY FEERPFAAAS IGQVHLARMK GGREVAMKIQ
YPGVAQSINS DVNNLMAVLN MSNMLPEGLF PEHLIDVLRR ELALECDYQR EAACARKFRD
LLKGHPFFYV PEIVDELCSP HVLTTELVSG FPLDQAEGLS QEIRNEICYN ILVLCLRELF
EFHFMQTDPN WSNFFYDPQQ HKVALLDFGA TREYDRSFTD LYIQIIRAAA DRDRETVRAK
SIEMKFLTGY EVKVMEDAHL DAILILGEAF ASDEPFDFGT QSTTEKIHNL IPVMLRHRLV
PPPEETYSLH RKMGGSFLIC SKLKARFPCK AMFEEAYSNY CKRQAQQ*
speed 1.13 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