MutationTaster - study a chromosomal position

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 7.68 s - this script 7.145863 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
COQ8A	disease_causing_automatic	0.999999999944963	simple_aae		affected	0	E551K	single base exchange	rs119468004		show file
COQ8A	disease_causing_automatic	0.999999999944963	simple_aae		affected	0	E551K	single base exchange	rs119468004		show file
COQ8A	disease_causing_automatic	0.999999999944963	simple_aae		affected	0	E272K	single base exchange	rs119468004		show file
COQ8A	disease_causing_automatic	0.999999999944963	simple_aae		affected	0	E225K	single base exchange	rs119468004		show file
COQ8A	disease_causing_automatic	0.999999999966857	simple_aae		affected	0	E499K	single base exchange	rs119468004		show file
COQ8A	disease_causing_automatic	0.999999999966857	simple_aae		affected	0	E476K	single base exchange	rs119468004		show file
COQ8A	disease_causing_automatic	0.999999999966857	simple_aae		affected	0	E396K	single base exchange	rs119468004		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999944963 (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)
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

ENST00000366779

Genbank transcript ID

N/A

UniProt peptide

Q8NI60

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1651G>A
cDNA.4422G>A
g.87797G>A

AA changes

E551K Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

551

frameshift

known variant

Reference ID: rs119468004

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

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

	PhyloP	PhastCons
(flanking)	-0.658	0.695
	6.135	1
(flanking)	5.066	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	87791	wt: 0.3035 / mu: 0.3238 (marginal change - not scored)	wt: TAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGC mu: TAGAGATGAAGTTCCTCACCGGCTACAAGGTCAAGGTGAGC	accg\|GCTA
Donor marginally increased	87799	wt: 0.9966 / mu: 0.9981 (marginal change - not scored)	wt: TACGAGGTCAAGGTG mu: TACAAGGTCAAGGTG	CGAG\|gtca
Donor gained	87800	0.44	mu: ACAAGGTCAAGGTGA	AAGG\|tcaa
Donor gained	87793	0.79	mu: ACCGGCTACAAGGTC	CGGC\|taca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

551

mutated

all conserved

551

Ptroglodytes

all identical

ENSPTRG00000033741

550

Mmulatta

all identical

ENSMMUG00000008636

551

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026489

548

Ggallus

all identical

ENSGALG00000009082

552

Trubripes

all identical

ENSTRUG00000014182

342

Drerio

all identical

ENSDARG00000020123

520

Dmelanogaster

all identical

FBgn0052649

569

Celegans

all identical

C35D10.4

654

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

strand

last intron/exon boundary

4431

theoretical NMD boundary in CDS

1609

length of CDS

1944

coding sequence (CDS) position

1651

cDNA position
(for ins/del: last normal base / first normal base)

4422

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

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 TREYDRSFTD LYIQIIRAAA DRDRETVRAK
SIEMKFLTGY KVKVMEDAHL DAILILGEAF ASDEPFDFGT QSTTEKIHNL IPVMLRHRLV
PPPEETYSLH RKMGGSFLIC SKLKARFPCK AMFEEAYSNY CKRQAQQ*

speed

0.87 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

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999944963 (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)
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

ENST00000366777

Genbank transcript ID

NM_020247

UniProt peptide

Q8NI60

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1651G>A
cDNA.1772G>A
g.87797G>A

AA changes

E551K Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

551

frameshift

known variant

Reference ID: rs119468004

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.658	0.695
	6.135	1
(flanking)	5.066	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	87791	wt: 0.3035 / mu: 0.3238 (marginal change - not scored)	wt: TAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGC mu: TAGAGATGAAGTTCCTCACCGGCTACAAGGTCAAGGTGAGC	accg\|GCTA
Donor marginally increased	87799	wt: 0.9966 / mu: 0.9981 (marginal change - not scored)	wt: TACGAGGTCAAGGTG mu: TACAAGGTCAAGGTG	CGAG\|gtca
Donor gained	87800	0.44	mu: ACAAGGTCAAGGTGA	AAGG\|tcaa
Donor gained	87793	0.79	mu: ACCGGCTACAAGGTC	CGGC\|taca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

551

mutated

all conserved

551

Ptroglodytes

all identical

ENSPTRG00000033741

550

Mmulatta

all identical

ENSMMUG00000008636

551

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026489

548

Ggallus

all identical

ENSGALG00000009082

552

Trubripes

all identical

ENSTRUG00000014182

342

Drerio

all identical

ENSDARG00000020123

520

Dmelanogaster

all identical

FBgn0052649

569

Celegans

all identical

C35D10.4

654

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

strand

last intron/exon boundary

1781

theoretical NMD boundary in CDS

1609

length of CDS

1944

coding sequence (CDS) position

1651

cDNA position
(for ins/del: last normal base / first normal base)

1772

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

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 TREYDRSFTD LYIQIIRAAA DRDRETVRAK
SIEMKFLTGY KVKVMEDAHL DAILILGEAF ASDEPFDFGT QSTTEKIHNL IPVMLRHRLV
PPPEETYSLH RKMGGSFLIC SKLKARFPCK AMFEEAYSNY CKRQAQQ*

speed

0.90 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999944963 (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

ENST00000458507

Genbank transcript ID

N/A

UniProt peptide

Q8NI60

alteration type

single base exchange

alteration region

CDS

DNA changes

c.814G>A
cDNA.1102G>A
g.87797G>A

AA changes

E272K Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

272

frameshift

known variant

Reference ID: rs119468004

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.658	0.695
	6.135	1
(flanking)	5.066	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	87791	wt: 0.3035 / mu: 0.3238 (marginal change - not scored)	wt: TAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGC mu: TAGAGATGAAGTTCCTCACCGGCTACAAGGTCAAGGTGAGC	accg\|GCTA
Donor marginally increased	87799	wt: 0.9966 / mu: 0.9981 (marginal change - not scored)	wt: TACGAGGTCAAGGTG mu: TACAAGGTCAAGGTG	CGAG\|gtca
Donor gained	87800	0.44	mu: ACAAGGTCAAGGTGA	AAGG\|tcaa
Donor gained	87793	0.79	mu: ACCGGCTACAAGGTC	CGGC\|taca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

272

mutated

all conserved

272

Ptroglodytes

all identical

ENSPTRG00000033741

550

Mmulatta

all identical

ENSMMUG00000008636

551

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026489

548

Ggallus

all identical

ENSGALG00000009082

552

Trubripes

all identical

ENSTRUG00000014182

342

Drerio

all identical

ENSDARG00000020123

520

Dmelanogaster

all identical

FBgn0052649

569

Celegans

all identical

C35D10.4

654

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
283	284	CONFLICT	IQ -> VR (in Ref. 4; BAC11143).	might get lost (downstream of altered splice site)
329	518	DOMAIN	Protein 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

strand

last intron/exon boundary

1111

theoretical NMD boundary in CDS

772

length of CDS

1107

coding sequence (CDS) position

814

cDNA position
(for ins/del: last normal base / first normal base)

1102

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

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 ATREYDRSFT
DLYIQIIRAA ADRDRETVRA KSIEMKFLTG YKVKVMEDAH LDAILILGEA FASDEPFDFG
TQSTTEKIHN LIPVMLRHRL VPPPEETYSL HRKMGGSFLI CSKLKARFPC KAMFEEAYSN
YCKRQAQQ*

speed

0.84 s

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999944963 (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

ENST00000433743

Genbank transcript ID

N/A

UniProt peptide

Q8NI60

alteration type

single base exchange

alteration region

CDS

DNA changes

c.673G>A
cDNA.912G>A
g.87797G>A

AA changes

E225K Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

225

frameshift

known variant

Reference ID: rs119468004

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.658	0.695
	6.135	1
(flanking)	5.066	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	87791	wt: 0.3035 / mu: 0.3238 (marginal change - not scored)	wt: TAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGC mu: TAGAGATGAAGTTCCTCACCGGCTACAAGGTCAAGGTGAGC	accg\|GCTA
Donor marginally increased	87799	wt: 0.9966 / mu: 0.9981 (marginal change - not scored)	wt: TACGAGGTCAAGGTG mu: TACAAGGTCAAGGTG	CGAG\|gtca
Donor gained	87800	0.44	mu: ACAAGGTCAAGGTGA	AAGG\|tcaa
Donor gained	87793	0.79	mu: ACCGGCTACAAGGTC	CGGC\|taca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

225

mutated

all conserved

225

Ptroglodytes

all identical

ENSPTRG00000033741

550

Mmulatta

all identical

ENSMMUG00000008636

551

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026489

548

Ggallus

all identical

ENSGALG00000009082

552

Trubripes

all identical

ENSTRUG00000014182

342

Drerio

all identical

ENSDARG00000020123

520

Dmelanogaster

all identical

FBgn0052649

569

Celegans

all identical

C35D10.4

654

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
283	284	CONFLICT	IQ -> VR (in Ref. 4; BAC11143).	might get lost (downstream of altered splice site)
329	518	DOMAIN	Protein 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

strand

last intron/exon boundary

921

theoretical NMD boundary in CDS

631

length of CDS

966

coding sequence (CDS) position

673

cDNA position
(for ins/del: last normal base / first normal base)

912

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

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 LTGYKVKVME DAHLDAILIL
GEAFASDEPF DFGTQSTTEK IHNLIPVMLR HRLVPPPEET YSLHRKMGGS FLICSKLKAR
FPCKAMFEEA YSNYCKRQAQ Q*

speed

1.30 s

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

known variant

Reference ID: rs119468004

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.658	0.695
	6.135	1
(flanking)	5.066	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	87791	wt: 0.3035 / mu: 0.3238 (marginal change - not scored)	wt: TAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGC mu: TAGAGATGAAGTTCCTCACCGGCTACAAGGTCAAGGTGAGC	accg\|GCTA
Donor marginally increased	87799	wt: 0.9966 / mu: 0.9981 (marginal change - not scored)	wt: TACGAGGTCAAGGTG mu: TACAAGGTCAAGGTG	CGAG\|gtca
Donor gained	87800	0.44	mu: ACAAGGTCAAGGTGA	AAGG\|tcaa
Donor gained	87793	0.79	mu: ACCGGCTACAAGGTC	CGGC\|taca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

499

mutated

all conserved

499

Ptroglodytes

all identical

ENSPTRG00000033741

550

Mmulatta

all identical

ENSMMUG00000008636

551

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026489

548

Ggallus

all identical

ENSGALG00000009082

552

Trubripes

all identical

ENSTRUG00000014182

342

Drerio

all identical

ENSDARG00000020123

520

Dmelanogaster

all identical

FBgn0052649

569

Celegans

all identical

C35D10.4

654

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
329	518	DOMAIN	Protein 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

strand

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

1.25 s

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

ENST00000366776

Genbank transcript ID

N/A

UniProt peptide

Q8NI60

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1426G>A
cDNA.1541G>A
g.87797G>A

AA changes

E476K Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

476

frameshift

known variant

Reference ID: rs119468004

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.658	0.695
	6.135	1
(flanking)	5.066	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	87791	wt: 0.3035 / mu: 0.3238 (marginal change - not scored)	wt: TAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGC mu: TAGAGATGAAGTTCCTCACCGGCTACAAGGTCAAGGTGAGC	accg\|GCTA
Donor marginally increased	87799	wt: 0.9966 / mu: 0.9981 (marginal change - not scored)	wt: TACGAGGTCAAGGTG mu: TACAAGGTCAAGGTG	CGAG\|gtca
Donor gained	87800	0.44	mu: ACAAGGTCAAGGTGA	AAGG\|tcaa
Donor gained	87793	0.79	mu: ACCGGCTACAAGGTC	CGGC\|taca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

476

mutated

all conserved

476

Ptroglodytes

all identical

ENSPTRG00000033741

550

Mmulatta

all identical

ENSMMUG00000008636

551

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026489

548

Ggallus

all identical

ENSGALG00000009082

552

Trubripes

all identical

ENSTRUG00000014182

342

Drerio

all identical

ENSDARG00000020123

520

Dmelanogaster

all identical

FBgn0052649

569

Celegans

all identical

C35D10.4

654

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
329	518	DOMAIN	Protein 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

strand

last intron/exon boundary

1550

theoretical NMD boundary in CDS

1384

length of CDS

1719

coding sequence (CDS) position

1426

cDNA position
(for ins/del: last normal base / first normal base)

1541

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

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 LDFGATREYD RSFTDLYIQI IRAAADRDRE TVRAKSIEMK FLTGYKVKVM
EDAHLDAILI LGEAFASDEP FDFGTQSTTE KIHNLIPVML RHRLVPPPEE TYSLHRKMGG
SFLICSKLKA RFPCKAMFEE AYSNYCKRQA QQ*

speed

1.20 s

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

ENST00000366775

Genbank transcript ID

N/A

UniProt peptide

Q8NI60

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1186G>A
cDNA.1560G>A
g.87797G>A

AA changes

E396K Score: 56 explain score(s)

position(s) of altered AA
if AA alteration in CDS

396

frameshift

known variant

Reference ID: rs119468004

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	1	1

regulatory features

PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.658	0.695
	6.135	1
(flanking)	5.066	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	87791	wt: 0.3035 / mu: 0.3238 (marginal change - not scored)	wt: TAGAGATGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGC mu: TAGAGATGAAGTTCCTCACCGGCTACAAGGTCAAGGTGAGC	accg\|GCTA
Donor marginally increased	87799	wt: 0.9966 / mu: 0.9981 (marginal change - not scored)	wt: TACGAGGTCAAGGTG mu: TACAAGGTCAAGGTG	CGAG\|gtca
Donor gained	87800	0.44	mu: ACAAGGTCAAGGTGA	AAGG\|tcaa
Donor gained	87793	0.79	mu: ACCGGCTACAAGGTC	CGGC\|taca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

396

mutated

all conserved

396

Ptroglodytes

all identical

ENSPTRG00000033741

550

Mmulatta

all identical

ENSMMUG00000008636

551

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000026489

548

Ggallus

all identical

ENSGALG00000009082

552

Trubripes

all identical

ENSTRUG00000014182

342

Drerio

all identical

ENSDARG00000020123

520

Dmelanogaster

all identical

FBgn0052649

569

Celegans

all identical

C35D10.4

654

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
329	518	DOMAIN	Protein 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

strand

last intron/exon boundary

1569

theoretical NMD boundary in CDS

1144

length of CDS

1479

coding sequence (CDS) position

1186

cDNA position
(for ins/del: last normal base / first normal base)

1560

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

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 LDFGATREYD
RSFTDLYIQI IRAAADRDRE TVRAKSIEMK FLTGYKVKVM EDAHLDAILI LGEAFASDEP
FDFGTQSTTE KIHNLIPVML RHRLVPPPEE TYSLHRKMGG SFLICSKLKA RFPCKAMFEE
AYSNYCKRQA QQ*

speed

1.32 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems