Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99840468961694 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM081197)
  • known disease mutation: rs3643 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:227172611A>GN/A show variant in all transcripts   IGV
HGNC symbol COQ8A
Ensembl transcript ID ENST00000366779
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.1541A>G
cDNA.4312A>G
g.87375A>G
AA changes Y514C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 514
frameshift no
known variant Reference ID: rs119468008
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs3643 (pathogenic for Coenzyme Q10 deficiency, primary, 4) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM081197)

known disease mutation at this position, please check HGMD for details (HGMD ID CM081197)
known disease mutation at this position, please check HGMD for details (HGMD ID CM081197)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.4771
0.3390.999
(flanking)0.8931
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased87369wt: 0.32 / mu: 0.97wt: AACGCGGGAATATGA
mu: AACGCGGGAATGTGA		 CGCG|ggaa
Donor marginally increased87368wt: 0.8098 / mu: 0.8299 (marginal change - not scored)wt: CAACGCGGGAATATG
mu: CAACGCGGGAATGTG		 ACGC|ggga
distance from splice site 32
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      514VALLDFGATREYDRSFTDLYIQII
mutated  not conserved    514VALLDFGATRECDRSFTDLYIQI
Ptroglodytes  all identical  ENSPTRG00000033741  514VA-LDFGATREYDRSFTDLYIQI
Mmulatta  all identical  ENSMMUG00000008636  514VALLDFGATREYDRSFTDLYIQI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026489  511VALLDFGATREYDRSFTDLYIQV
Ggallus  all conserved  ENSGALG00000009082  515VALLDFGATRGFDEKFTDVYIEV
Trubripes  all conserved  ENSTRUG00000014182  305VALLDFGATRGFDQSFTDVYIEI
Drerio  all conserved  ENSDARG00000020123  483VALLDFGATRGFDESFTDVYIEI
Dmelanogaster  all identical  FBgn0052649  532LMLIDFGSTRFYRHEFIRNYRRV
Celegans  all identical  C35D10.4  613LVLLDFGASRAYGKKFVDIYMNI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
329518DOMAINProtein kinase.lost
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 4715 / 4715
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 2772 / 2772
chromosome 1
strand 1
last intron/exon boundary 4431
theoretical NMD boundary in CDS 1609
length of CDS 1944
coding sequence (CDS) position 1541
cDNA position
(for ins/del: last normal base / first normal base)		 4312
gDNA position
(for ins/del: last normal base / first normal base)		 87375
chromosomal position
(for ins/del: last normal base / first normal base)		 227172611
original gDNA sequence snippet TTTTGGGGCAACGCGGGAATATGACAGATCCTTCACCGACC
altered gDNA sequence snippet TTTTGGGGCAACGCGGGAATGTGACAGATCCTTCACCGACC
original cDNA sequence snippet TTTTGGGGCAACGCGGGAATATGACAGATCCTTCACCGACC
altered cDNA sequence snippet TTTTGGGGCAACGCGGGAATGTGACAGATCCTTCACCGACC
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 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 TRECDRSFTD LYIQIIRAAA DRDRETVRAK
SIEMKFLTGY EVKVMEDAHL DAILILGEAF ASDEPFDFGT QSTTEKIHNL IPVMLRHRLV
PPPEETYSLH RKMGGSFLIC SKLKARFPCK AMFEEAYSNY CKRQAQQ*
speed 1.36 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