Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999966857 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM081193)
  • known disease mutation: rs3636 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:227173033G>AN/A show variant in all transcripts   IGV
HGNC symbol COQ8A
Ensembl transcript ID ENST00000366778
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.1495G>A
cDNA.1643G>A
g.87797G>A
AA changes E499K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 499
frameshift no
known variant Reference ID: rs119468004
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC011

known disease mutation: rs3636 (pathogenic for See cases|Coenzyme Q10 deficiency, primary, 4) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM081193)

known disease mutation at this position, please check HGMD for details (HGMD ID CM081193)
known disease mutation at this position, please check HGMD for details (HGMD ID CM081193)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6580.695
6.1351
(flanking)5.0661
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 increased87791wt: 0.3035 / mu: 0.3238 (marginal change - not scored)wt: TAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGC
mu: TAGAGATGAAGTTCCTCACCGGCTACAAGGTCAAGGTGAGC		 accg|GCTA
Donor marginally increased87799wt: 0.9966 / mu: 0.9981 (marginal change - not scored)wt: TACGAGGTCAAGGTG
mu: TACAAGGTCAAGGTG		 CGAG|gtca
Donor gained878000.44mu: ACAAGGTCAAGGTGA AAGG|tcaa
Donor gained877930.79mu: ACCGGCTACAAGGTC CGGC|taca
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      499KSIEMKFLTGYEVKVMEDAHLDAI
mutated  all conserved    499KSIEMKFLTGYKVKVMEDAHLDA
Ptroglodytes  all identical  ENSPTRG00000033741  550KSIEMKFLTGYEVKVMEDAHLDA
Mmulatta  all identical  ENSMMUG00000008636  551KSIEMKFLTGYEVKVMEDAHLDA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026489  548KSIEMKFLTGYEVKAMEDAHLDA
Ggallus  all identical  ENSGALG00000009082  552KSIEMKFLTGYEVKEMEDAHLNA
Trubripes  all identical  ENSTRUG00000014182  342KSIEMKFLTGYESKAMINAHVDA
Drerio  all identical  ENSDARG00000020123  520MKFLTGYESKAMVNAHVDA
Dmelanogaster  all identical  FBgn0052649  569SREMGFLTGYETKQMEQAHVDA
Celegans  all identical  C35D10.4  654YSREIGFLTGYETSVMEDAHVES
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 1788 / 1788
position (AA) of stopcodon in wt / mu AA sequence 596 / 596
position of stopcodon in wt / mu cDNA 1936 / 1936
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 1
strand 1
last intron/exon boundary 1652
theoretical NMD boundary in CDS 1453
length of CDS 1788
coding sequence (CDS) position 1495
cDNA position
(for ins/del: last normal base / first normal base)		 1643
gDNA position
(for ins/del: last normal base / first normal base)		 87797
chromosomal position
(for ins/del: last normal base / first normal base)		 227173033
original gDNA sequence snippet TGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGCAGGGTT
altered gDNA sequence snippet TGAAGTTCCTCACCGGCTACAAGGTCAAGGTGAGCAGGGTT
original cDNA sequence snippet TGAAGTTCCTCACCGGCTACGAGGTCAAGGTCATGGAAGAC
altered cDNA sequence snippet TGAAGTTCCTCACCGGCTACAAGGTCAAGGTCATGGAAGAC
wildtype AA sequence MFLGKVQGQD KHEEYFAENF GGPEGEFHFS VPHAAGASTD FSSASAPDQS APPSLGHAHS
EGPAPAYVAS GPFREAGFPG QASSPLGRAN GRLFANPRDS FSAMGFQRRF FHQDQSPVGG
LTAEDIEKAR QAKARPENKQ HKQTLSEHAR ERKVPVTRIG RLANFGGLAV GLGFGALAEV
AKKSLRSEDP SGKKAVLGSS PFLSEANAER IVRTLCKVRG AALKLGQMLS IQDDAFINPH
LAKIFERVRQ SADFMPLKQM MKTLNNDLGP NWRDKLEYFE ERPFAAASIG QVHLARMKGG
REVAMKIQYP GVAQSINSDV NNLMAVLNMS NMLPEGLFPE HLIDVLRREL ALECDYQREA
ACARKFRDLL KGHPFFYVPE IVDELCSPHV LTTELVSGFP LDQAEGLSQE IRNEICYNIL
VLCLRELFEF HFMQTDPNWS NFFYDPQQHK VALLDFGATR EYDRSFTDLY IQIIRAAADR
DRETVRAKSI EMKFLTGYEV KVMEDAHLDA ILILGEAFAS DEPFDFGTQS TTEKIHNLIP
VMLRHRLVPP PEETYSLHRK MGGSFLICSK LKARFPCKAM FEEAYSNYCK RQAQQ*
mutated AA sequence MFLGKVQGQD KHEEYFAENF GGPEGEFHFS VPHAAGASTD FSSASAPDQS APPSLGHAHS
EGPAPAYVAS GPFREAGFPG QASSPLGRAN GRLFANPRDS FSAMGFQRRF FHQDQSPVGG
LTAEDIEKAR QAKARPENKQ HKQTLSEHAR ERKVPVTRIG RLANFGGLAV GLGFGALAEV
AKKSLRSEDP SGKKAVLGSS PFLSEANAER IVRTLCKVRG AALKLGQMLS IQDDAFINPH
LAKIFERVRQ SADFMPLKQM MKTLNNDLGP NWRDKLEYFE ERPFAAASIG QVHLARMKGG
REVAMKIQYP GVAQSINSDV NNLMAVLNMS NMLPEGLFPE HLIDVLRREL ALECDYQREA
ACARKFRDLL KGHPFFYVPE IVDELCSPHV LTTELVSGFP LDQAEGLSQE IRNEICYNIL
VLCLRELFEF HFMQTDPNWS NFFYDPQQHK VALLDFGATR EYDRSFTDLY IQIIRAAADR
DRETVRAKSI EMKFLTGYKV KVMEDAHLDA ILILGEAFAS DEPFDFGTQS TTEKIHNLIP
VMLRHRLVPP PEETYSLHRK MGGSFLICSK LKARFPCKAM FEEAYSNYCK RQAQQ*
speed 0.56 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