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 5.239857 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
COQ8Adisease_causing_automatic0.997353619105933simple_aaeaffected0Y235Csingle base exchangers119468008show file
COQ8Adisease_causing_automatic0.997353619105933simple_aaeaffected0Y188Csingle base exchangers119468008show file
COQ8Adisease_causing_automatic0.99840468961694simple_aaeaffected0Y514Csingle base exchangers119468008show file
COQ8Adisease_causing_automatic0.99840468961694simple_aaeaffected0Y462Csingle base exchangers119468008show file
COQ8Adisease_causing_automatic0.99840468961694simple_aaeaffected0Y514Csingle base exchangers119468008show file
COQ8Adisease_causing_automatic0.99840468961694simple_aaeaffected0Y439Csingle base exchangers119468008show file
COQ8Adisease_causing_automatic0.99840468961694simple_aaeaffected0Y359Csingle base exchangers119468008show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.997353619105933 (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 ENST00000458507
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.704A>G
cDNA.992A>G
g.87375A>G
AA changes Y235C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 235
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      235VALLDFGATREYDRSFTDLYIQII
mutated  not conserved    235VALLDFGATRECDRSFT
Ptroglodytes  all identical  ENSPTRG00000033741  514VA-LDFGATREYDRSFT
Mmulatta  all identical  ENSMMUG00000008636  514VALLDFGATREYDRSFT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026489  511VALLDFGATREYDRSFT
Ggallus  all conserved  ENSGALG00000009082  515VALLDFGATRGFDEKFT
Trubripes  all conserved  ENSTRUG00000014182  305VALLDFGATRGFDQSFTDVYIE
Drerio  all conserved  ENSDARG00000020123  483VALLDFGATRGFDESFT
Dmelanogaster  all identical  FBgn0052649  532LMLIDFGSTRFYRHEFI
Celegans  all identical  C35D10.4  613LVLLDFGASRAYG
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 1107 / 1107
position (AA) of stopcodon in wt / mu AA sequence 369 / 369
position of stopcodon in wt / mu cDNA 1395 / 1395
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 704
cDNA position
(for ins/del: last normal base / first normal base)		 992
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 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 MLSIQDDAFI NPHLAKIFER VRQSADFMPL KQMMKTLNND LGPNWRDKLE YFEERPFAAA
SIGQVHLARM KGGREVAMKI QYPGVAQSIN SDVNNLMAVL NMSNMLPEGL FPEHLIDVLR
RELALECDYQ REAACARKFR DLLKGHPFFY VPEIVDELCS PHVLTTELVS GFPLDQAEGL
SQEIRNEICY NILVLCLREL FEFHFMQTDP NWSNFFYDPQ QHKVALLDFG ATRECDRSFT
DLYIQIIRAA ADRDRETVRA KSIEMKFLTG YEVKVMEDAH LDAILILGEA FASDEPFDFG
TQSTTEKIHN LIPVMLRHRL VPPPEETYSL HRKMGGSFLI CSKLKARFPC KAMFEEAYSN
YCKRQAQQ*
speed 0.55 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: 0.997353619105933 (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 ENST00000433743
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.563A>G
cDNA.802A>G
g.87375A>G
AA changes Y188C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 188
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      188VALLDFGATREYDRSFTDLYIQII
mutated  not conserved    188DFGATRECDRSFTDLYIQI
Ptroglodytes  all identical  ENSPTRG00000033741  514VA-LDFGATREYDRSFT
Mmulatta  all identical  ENSMMUG00000008636  514VALLDFGATREYDRSFT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026489  511VALLDFGATREYDRSFT
Ggallus  all conserved  ENSGALG00000009082  515VALLDFGATRGFDEKFT
Trubripes  all conserved  ENSTRUG00000014182  305VALLDFGATRGFDQSFTDVYIE
Drerio  all conserved  ENSDARG00000020123  483VALLDFGATRGFDESFT
Dmelanogaster  all identical  FBgn0052649  532LMLIDFGSTRFYRHEFI
Celegans  all identical  C35D10.4  613LVLLDFGASRAYG
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 563
cDNA position
(for ins/del: last normal base / first normal base)		 802
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 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
DFGATRECDR SFTDLYIQII RAAADRDRET VRAKSIEMKF LTGYEVKVME DAHLDAILIL
GEAFASDEPF DFGTQSTTEK IHNLIPVMLR HRLVPPPEET YSLHRKMGGS FLICSKLKAR
FPCKAMFEEA YSNYCKRQAQ Q*
speed 0.55 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: 0.99840468961694 (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 0.61 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: 0.99840468961694 (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 ENST00000366778
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.1385A>G
cDNA.1533A>G
g.87375A>G
AA changes Y462C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 462
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      462VALLDFGATREYDRSFTDLYIQII
mutated  not conserved    462VALLDFGATRECDRSFTDLYIQI
Ptroglodytes  all identical  ENSPTRG00000033741  514VA-LDFGATREYDRSFTDLYIQI
Mmulatta  all identical  ENSMMUG00000008636  514VALLDFGATREYDRSFTDLYIQI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026489  511VALLDFGATREYDRSFTDLYIQV
Ggallus  all conserved  ENSGALG00000009082  515VALLDFGATRGFDEKFTDV
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 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 1385
cDNA position
(for ins/del: last normal base / first normal base)		 1533
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 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 ECDRSFTDLY IQIIRAAADR
DRETVRAKSI EMKFLTGYEV KVMEDAHLDA ILILGEAFAS DEPFDFGTQS TTEKIHNLIP
VMLRHRLVPP PEETYSLHRK MGGSFLICSK LKARFPCKAM FEEAYSNYCK RQAQQ*
speed 0.61 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: 0.99840468961694 (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 ENST00000366777
Genbank transcript ID NM_020247
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.1541A>G
cDNA.1662A>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 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 1541
cDNA position
(for ins/del: last normal base / first normal base)		 1662
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 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
back to results table
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 ENST00000366776
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.1316A>G
cDNA.1431A>G
g.87375A>G
AA changes Y439C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 439
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      439VALLDFGATREYDRSFTDLYIQII
mutated  not conserved    439VALLDFGATRECDRSFTDLYIQI
Ptroglodytes  all identical  ENSPTRG00000033741  514VA-LDFGATREYDRSFTDLYIQI
Mmulatta  all identical  ENSMMUG00000008636  514VALLDFGATREYDRSFTDLYIQI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026489  511VALLDFGATREYDRSFTDLYIQV
Ggallus  all conserved  ENSGALG00000009082  515VALLDFGATRGFDEKFTDVYIE
Trubripes  all conserved  ENSTRUG00000014182  305VALLDFGATRGFDQSFTDVYIEI
Drerio  all conserved  ENSDARG00000020123  483GFDESFTDVYIEI
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 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 1316
cDNA position
(for ins/del: last normal base / first normal base)		 1431
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 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 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 LDFGATRECD RSFTDLYIQI IRAAADRDRE TVRAKSIEMK FLTGYEVKVM
EDAHLDAILI LGEAFASDEP FDFGTQSTTE KIHNLIPVML RHRLVPPPEE TYSLHRKMGG
SFLICSKLKA RFPCKAMFEE AYSNYCKRQA QQ*
speed 0.95 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: 0.99840468961694 (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 ENST00000366775
Genbank transcript ID N/A
UniProt peptide Q8NI60
alteration type single base exchange
alteration region CDS
DNA changes c.1076A>G
cDNA.1450A>G
g.87375A>G
AA changes Y359C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 359
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      359VALLDFGATREYDRSFTDLYIQII
mutated  not conserved    359VALLDFGATRECDRSFTDLYIQI
Ptroglodytes  all identical  ENSPTRG00000033741  514VA-LDFGATREYDRSFTDLYIQI
Mmulatta  all identical  ENSMMUG00000008636  514VALLDFGATREYDRSFTDLYIQI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026489  511VALLDFGATREYDR
Ggallus  all conserved  ENSGALG00000009082  515VALLDFGATRGFDEKF
Trubripes  all conserved  ENSTRUG00000014182  305VALLDFGATRGFDQSFTDVYIEI
Drerio  all conserved  ENSDARG00000020123  483VALLDFGATRGFDESFT
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 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 1076
cDNA position
(for ins/del: last normal base / first normal base)		 1450
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 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 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 LDFGATRECD
RSFTDLYIQI IRAAADRDRE TVRAKSIEMK FLTGYEVKVM EDAHLDAILI LGEAFASDEP
FDFGTQSTTE KIHNLIPVML RHRLVPPPEE TYSLHRKMGG SFLICSKLKA RFPCKAMFEE
AYSNYCKRQA QQ*
speed 1.39 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

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