Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 7 transcript(s)...
Querying Taster for transcript #1: ENST00000366779
Querying Taster for transcript #2: ENST00000366778
Querying Taster for transcript #3: ENST00000366777
Querying Taster for transcript #4: ENST00000366776
Querying Taster for transcript #5: ENST00000366775
Querying Taster for transcript #6: ENST00000458507
Querying Taster for transcript #7: ENST00000433743
MT speed 0 s - this script 5.316964 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
COQ8Adisease_causing_automatic0.999999815624019simple_aae0R213Wsingle base exchangers119468005show file
COQ8Adisease_causing_automatic0.999999815624019simple_aae0R161Wsingle base exchangers119468005show file
COQ8Adisease_causing_automatic0.999999815624019simple_aae0R213Wsingle base exchangers119468005show file
COQ8Adisease_causing_automatic0.999999815624019simple_aae0R138Wsingle base exchangers119468005show file
COQ8Adisease_causing_automatic0.999999815624019simple_aae0R58Wsingle base exchangers119468005show file
COQ8Adisease_causing_automatic1without_aae0single base exchangers119468005show file
COQ8Adisease_causing_automatic1without_aae0single base exchangers119468005show file

Taster files

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 ENST00000366779
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.637C>T
cDNA.3408C>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 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 637
cDNA position
(for ins/del: last normal base / first normal base)		 3408
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 0.84 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
back to results table
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 ENST00000366778
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.481C>T
cDNA.629C>T
g.68184C>T
AA changes R161W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 161
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      161RERKVPVTRIGRLANFGGLAVGLG
mutated  not conserved    161RERKVPVTRIGWLANFGGLAVGL
Ptroglodytes  all identical  ENSPTRG00000033741  213RERKVPVTRIGRLANFGGLAVGL
Mmulatta  all identical  ENSMMUG00000008636  213RERKVPVTRIGRLANFGGLAVGL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026489  210RERKVPVTRIGRLANFGGLAVGL
Ggallus  all identical  ENSGALG00000009082  216RERKVPVTRIGRLANFGGLA
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 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 481
cDNA position
(for ins/del: last normal base / first normal base)		 629
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 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 WLANFGGLAV 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*
speed 0.88 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
back to results table
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 0.73 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
back to results table
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 ENST00000366776
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.412C>T
cDNA.527C>T
g.68184C>T
AA changes R138W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 138
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      138RERKVPVTRIGRLANFGGLAVGLG
mutated  not conserved    138RERKVPVTRIGWLANFGGLAVGL
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 1719 / 1719
position (AA) of stopcodon in wt / mu AA sequence 573 / 573
position of stopcodon in wt / mu cDNA 1834 / 1834
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 116 / 116
chromosome 1
strand 1
last intron/exon boundary 1550
theoretical NMD boundary in CDS 1384
length of CDS 1719
coding sequence (CDS) position 412
cDNA position
(for ins/del: last normal base / first normal base)		 527
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 GIGGELIMGP APAYVASGPF REAGFPGQAS
SPLGRANGRL FANPRDSFSA MGFQRRFFHQ DQSPVGGLTA EDIEKARQAK ARPENKQHKQ
TLSEHARERK VPVTRIGRLA NFGGLAVGLG FGALAEVAKK SLRSEDPSGK KAVLGSSPFL
SEANAERIVR TLCKVRGAAL KLGQMLSIQD DAFINPHLAK IFERVRQSAD FMPLKQMMKT
LNNDLGPNWR DKLEYFEERP FAAASIGQVH LARMKGGREV AMKIQYPGVA QSINSDVNNL
MAVLNMSNML PEGLFPEHLI DVLRRELALE CDYQREAACA RKFRDLLKGH PFFYVPEIVD
ELCSPHVLTT ELVSGFPLDQ AEGLSQEIRN EICYNILVLC LRELFEFHFM QTDPNWSNFF
YDPQQHKVAL LDFGATREYD RSFTDLYIQI IRAAADRDRE TVRAKSIEMK FLTGYEVKVM
EDAHLDAILI LGEAFASDEP FDFGTQSTTE KIHNLIPVML RHRLVPPPEE TYSLHRKMGG
SFLICSKLKA RFPCKAMFEE AYSNYCKRQA QQ*
mutated AA sequence MAAILGDTIM VAKGLVKLTQ AAVETHLQHL GIGGELIMGP APAYVASGPF REAGFPGQAS
SPLGRANGRL FANPRDSFSA MGFQRRFFHQ DQSPVGGLTA EDIEKARQAK ARPENKQHKQ
TLSEHARERK VPVTRIGWLA NFGGLAVGLG FGALAEVAKK SLRSEDPSGK KAVLGSSPFL
SEANAERIVR TLCKVRGAAL KLGQMLSIQD DAFINPHLAK IFERVRQSAD FMPLKQMMKT
LNNDLGPNWR DKLEYFEERP FAAASIGQVH LARMKGGREV AMKIQYPGVA QSINSDVNNL
MAVLNMSNML PEGLFPEHLI DVLRRELALE CDYQREAACA RKFRDLLKGH PFFYVPEIVD
ELCSPHVLTT ELVSGFPLDQ AEGLSQEIRN EICYNILVLC LRELFEFHFM QTDPNWSNFF
YDPQQHKVAL LDFGATREYD RSFTDLYIQI IRAAADRDRE TVRAKSIEMK FLTGYEVKVM
EDAHLDAILI LGEAFASDEP FDFGTQSTTE KIHNLIPVML RHRLVPPPEE TYSLHRKMGG
SFLICSKLKA RFPCKAMFEE AYSNYCKRQA QQ*
speed 0.69 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
back to results table
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 ENST00000366775
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.172C>T
cDNA.546C>T
g.68184C>T
AA changes R58W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 58
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      58RERKVPVTRIGRLANFGGLAVGLG
mutated  not conserved    58RERKVPVTRIGWLA
Ptroglodytes  all identical  ENSPTRG00000033741  213RERKVPVTRIGRLA
Mmulatta  all identical  ENSMMUG00000008636  213RERKVPVTRIGRLA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026489  210RERKVPVTRIGRLAN
Ggallus  all identical  ENSGALG00000009082  216RERKVPVTRIGRLANFG
Trubripes  all identical  ENSTRUG00000014182  42RERKVPVTRLSRLANFGGLALGL
Drerio  all identical  ENSDARG00000020123  182RERKVPVTRLGRLANFGGL
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 1479 / 1479
position (AA) of stopcodon in wt / mu AA sequence 493 / 493
position of stopcodon in wt / mu cDNA 1853 / 1853
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 375 / 375
chromosome 1
strand 1
last intron/exon boundary 1569
theoretical NMD boundary in CDS 1144
length of CDS 1479
coding sequence (CDS) position 172
cDNA position
(for ins/del: last normal base / first normal base)		 546
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 MGFQRRFFHQ DQSPVGGLTA EDIEKARQAK ARPENKQHKQ TLSEHARERK VPVTRIGRLA
NFGGLAVGLG FGALAEVAKK SLRSEDPSGK KAVLGSSPFL SEANAERIVR TLCKVRGAAL
KLGQMLSIQD DAFINPHLAK IFERVRQSAD FMPLKQMMKT LNNDLGPNWR DKLEYFEERP
FAAASIGQVH LARMKGGREV AMKIQYPGVA QSINSDVNNL MAVLNMSNML PEGLFPEHLI
DVLRRELALE CDYQREAACA RKFRDLLKGH PFFYVPEIVD ELCSPHVLTT ELVSGFPLDQ
AEGLSQEIRN EICYNILVLC LRELFEFHFM QTDPNWSNFF YDPQQHKVAL LDFGATREYD
RSFTDLYIQI IRAAADRDRE TVRAKSIEMK FLTGYEVKVM EDAHLDAILI LGEAFASDEP
FDFGTQSTTE KIHNLIPVML RHRLVPPPEE TYSLHRKMGG SFLICSKLKA RFPCKAMFEE
AYSNYCKRQA QQ*
mutated AA sequence MGFQRRFFHQ DQSPVGGLTA EDIEKARQAK ARPENKQHKQ TLSEHARERK VPVTRIGWLA
NFGGLAVGLG FGALAEVAKK SLRSEDPSGK KAVLGSSPFL SEANAERIVR TLCKVRGAAL
KLGQMLSIQD DAFINPHLAK IFERVRQSAD FMPLKQMMKT LNNDLGPNWR DKLEYFEERP
FAAASIGQVH LARMKGGREV AMKIQYPGVA QSINSDVNNL MAVLNMSNML PEGLFPEHLI
DVLRRELALE CDYQREAACA RKFRDLLKGH PFFYVPEIVD ELCSPHVLTT ELVSGFPLDQ
AEGLSQEIRN EICYNILVLC LRELFEFHFM QTDPNWSNFF YDPQQHKVAL LDFGATREYD
RSFTDLYIQI IRAAADRDRE TVRAKSIEMK FLTGYEVKVM EDAHLDAILI LGEAFASDEP
FDFGTQSTTE KIHNLIPVML RHRLVPPPEE TYSLHRKMGG SFLICSKLKA RFPCKAMFEE
AYSNYCKRQA QQ*
speed 1.15 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000458507
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.68184C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 11730
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 289 / 289
chromosome 1
strand 1
last intron/exon boundary 1111
theoretical NMD boundary in CDS 772
length of CDS 1107
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MLSIQDDAFI NPHLAKIFER VRQSADFMPL KQMMKTLNND LGPNWRDKLE YFEERPFAAA
SIGQVHLARM KGGREVAMKI QYPGVAQSIN SDVNNLMAVL NMSNMLPEGL FPEHLIDVLR
RELALECDYQ REAACARKFR DLLKGHPFFY VPEIVDELCS PHVLTTELVS GFPLDQAEGL
SQEIRNEICY NILVLCLREL FEFHFMQTDP NWSNFFYDPQ QHKVALLDFG ATREYDRSFT
DLYIQIIRAA ADRDRETVRA KSIEMKFLTG YEVKVMEDAH LDAILILGEA FASDEPFDFG
TQSTTEKIHN LIPVMLRHRL VPPPEETYSL HRKMGGSFLI CSKLKARFPC KAMFEEAYSN
YCKRQAQQ*
mutated AA sequence N/A
speed 0.53 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000433743
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.39C>T
g.68184C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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? no
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 N/A
cDNA position
(for ins/del: last normal base / first normal base)		 39
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 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 N/A
speed 0.54 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
back to results table

Problems