Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999324229 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM081194)
  • known disease mutation: rs3646 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:227173027G>AN/A show variant in all transcripts   IGV
HGNC symbol COQ8A
Ensembl transcript ID ENST00000433743
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.667G>A
cDNA.906G>A
g.87791G>A
AA changes G223S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 223
frameshift no
known variant Reference ID: rs119468009
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC01919

known disease mutation: rs3646 (pathogenic for Coenzyme Q10 deficiency, primary, 4) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM081194)

known disease mutation at this position, please check HGMD for details (HGMD ID CM081194)
known disease mutation at this position, please check HGMD for details (HGMD ID CM081194)
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.820.001
4.4831
(flanking)6.1351
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: 0.3330 (marginal change - not scored)wt: TAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGC
mu: TAGAGATGAAGTTCCTCACCAGCTACGAGGTCAAGGTGAGC		 accg|GCTA
Donor marginally increased87791wt: 0.9755 / mu: 0.9913 (marginal change - not scored)wt: TCACCGGCTACGAGG
mu: TCACCAGCTACGAGG		 ACCG|gcta
Donor gained877930.36mu: ACCAGCTACGAGGTC CAGC|tacg
Donor gained877940.40mu: CCAGCTACGAGGTCA AGCT|acga
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      223RAKSIEMKFLTGYEVKVMEDAHLD
mutated  not conserved    223RAKSIEMKFLTSYEVKVMEDAHL
Ptroglodytes  all identical  ENSPTRG00000033741  548RAKSIEMKFLTGYEVKVMEDAHL
Mmulatta  all identical  ENSMMUG00000008636  549RAKSIEMKFLTGYEVKVMEDAHL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026489  546LKKSIEMKFLTGYEVKAMEDAHL
Ggallus  all identical  ENSGALG00000009082  550LKKSIEMKFLTGYEVKEMEDAHL
Trubripes  all identical  ENSTRUG00000014182  340LQKSIEMKFLTGYESKAMINAHV
Drerio  all identical  ENSDARG00000020123  518LKQSIDMKFLTGYESKAMVNAHV
Dmelanogaster  all identical  FBgn0052649  567LEMSREMGFLTGYETKQMEQAHV
Celegans  all identical  C35D10.4  652IEYSREIGFLTGYETSVMEDAHV
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
283284CONFLICTIQ -> VR (in Ref. 4; BAC11143).might get lost (downstream of altered splice site)
329518DOMAINProtein kinase.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 966 / 966
position (AA) of stopcodon in wt / mu AA sequence 322 / 322
position of stopcodon in wt / mu cDNA 1205 / 1205
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 240 / 240
chromosome 1
strand 1
last intron/exon boundary 921
theoretical NMD boundary in CDS 631
length of CDS 966
coding sequence (CDS) position 667
cDNA position
(for ins/del: last normal base / first normal base)		 906
gDNA position
(for ins/del: last normal base / first normal base)		 87791
chromosomal position
(for ins/del: last normal base / first normal base)		 227173027
original gDNA sequence snippet TAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGC
altered gDNA sequence snippet TAGAGATGAAGTTCCTCACCAGCTACGAGGTCAAGGTGAGC
original cDNA sequence snippet TAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTCATG
altered cDNA sequence snippet TAGAGATGAAGTTCCTCACCAGCTACGAGGTCAAGGTCATG
wildtype AA sequence MLSIQDDAFI NPHLAKIFER VRQSADFMPL KQMMYPGVAQ SINSDVNNLM AVLNMSNMLP
EGLFPEHLID VLRRELALEC DYQREAACAR KFRDLLKGHP FFYVPEIVDE LCSPHVLTTE
LVSGFPLDQA EGLSQEIRNE ICYNILVLCL RELFEFHFMQ TDPNWSNFFY DPQQHKVALL
DFGATREYDR SFTDLYIQII RAAADRDRET VRAKSIEMKF LTGYEVKVME DAHLDAILIL
GEAFASDEPF DFGTQSTTEK IHNLIPVMLR HRLVPPPEET YSLHRKMGGS FLICSKLKAR
FPCKAMFEEA YSNYCKRQAQ Q*
mutated AA sequence MLSIQDDAFI NPHLAKIFER VRQSADFMPL KQMMYPGVAQ SINSDVNNLM AVLNMSNMLP
EGLFPEHLID VLRRELALEC DYQREAACAR KFRDLLKGHP FFYVPEIVDE LCSPHVLTTE
LVSGFPLDQA EGLSQEIRNE ICYNILVLCL RELFEFHFMQ TDPNWSNFFY DPQQHKVALL
DFGATREYDR SFTDLYIQII RAAADRDRET VRAKSIEMKF LTSYEVKVME DAHLDAILIL
GEAFASDEPF DFGTQSTTEK IHNLIPVMLR HRLVPPPEET YSLHRKMGGS FLICSKLKAR
FPCKAMFEEA YSNYCKRQAQ Q*
speed 0.51 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