MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000366777
Querying Taster for transcript #2: ENST00000366778
MT speed 0.09 s - this script 2.527268 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000366777(MANE Select)	COQ8A	Deleterious	81\|19	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000366778	COQ8A	Deleterious	88\|12	simple_aae		No				Single base exchange		Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

1:226985332G>C_1_ENST00000366777

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 81|19 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:226985332G>C (GRCh38)

Gene symbol

COQ8A

Gene constraints

LOEUF: 1.00, LOF (oe): 0.79, misssense (oe): 1.04, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000366777.4

Genbank transcript ID

NM_020247 (exact from MANE)

UniProt / AlphaMissense peptide

COQ8A_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1651G>C
g.45047G>C

AA changes

AAE:	E551Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		551	K	S	I	E	M	K	F	L	T	G	Y	E	V	K	V	M	E	D	A	H	L	D	A	I
mutated	all conserved	551		S	I	E	M	K	F	L	T	G	Y	Q	V	K	V	M	E	D	A	H	L	D	A
Ptroglodytes	all identical	551		S	I	E	M	K	F	L	T	G	Y	E	V	K	V	M	E	D	A	H	L	D	A
Mmulatta	all identical	551		S	I	E	M	K	F	L	T	G	Y	E	V	K	V	M	E	D	A	H	L	D	A
Fcatus	all identical	589		S	I	E	M	K	F	L	T	G	Y	E	V	K	A	M	E	D	A	H	L	D	A
Mmusculus	all identical	548	K	S	I	E	M	K	F	L	T	G	Y	E	V	K	A	M	E	D	A	H	L	D	A
Ggallus	all identical	549	K	S	I	E	M	K	F	L	T	G	Y	E	V	K	E	M	E	D	A	H	L	N	A
Trubripes	all identical	1095	K	S	I	E	M	K	F	L	T	G	Y	E	S	K	A	M	I	N	A	H	V	D	A
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	549	K	S	V	E	M	K	F	L	S	G	Y	E	S	K	A	M	E	Q	A	H	L	E	A

Protein features

Start (aa)	End (aa)	Feature	Details
163	647	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.187	0.003
	9.994	1
(flanking)	9.318	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

9

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

TGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGCAGGGTT

Altered gDNA sequence snippet

TGAAGTTCCTCACCGGCTACCAGGTCAAGGTGAGCAGGGTT

Original cDNA sequence snippet

TGAAGTTCCTCACCGGCTACGAGGTCAAGGTCATGGAAGAC

Altered cDNA sequence snippet

TGAAGTTCCTCACCGGCTACCAGGTCAAGGTCATGGAAGAC

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 QVKVMEDAHL DAILILGEAF ASDEPFDFGT QSTTEKIHNL IPVMLRHRLV
PPPEETYSLH RKMGGSFLIC SKLKARFPCK AMFEEAYSNY CKRQAQQ*

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

2059 / 2059

Position of start ATG in wt / mu cDNA

116 / 116

Last intron/exon boundary

1774

Theoretical NMD boundary in CDS

1608

Length of CDS

1944

Coding sequence (CDS) position

1651

cDNA position

1766

gDNA position

45047

Chromosomal position

226985332

Speed

0.05 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

1:226985332G>C_2_ENST00000366778

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 88|12 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:226985332G>C (GRCh38)

Gene symbol

COQ8A

Gene constraints

LOEUF: 0.97, LOF (oe): 0.77, misssense (oe): 1.05, synonymous (oe): 1.04 ? (gnomAD)

Ensembl transcript ID

ENST00000366778.5

Genbank transcript ID

UniProt / AlphaMissense peptide

COQ8A_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1495G>C
g.45047G>C

AA changes

AAE:	E499Q	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
	Allele 'C' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		499	K	S	I	E	M	K	F	L	T	G	Y	E	V	K	V	M	E	D	A	H	L	D	A	I
mutated	all conserved	499	K	S	I	E	M	K	F	L	T	G	Y	Q	V	K	V	M	E	D	A	H	L	D	A
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
163	647	CHAIN		lost
329	518	DOMAIN	Protein kinase	lost
498	501	TURN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.187	0.003
	9.994	1
(flanking)	9.318	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

9

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

1

Strand

1

Original gDNA sequence snippet

TGAAGTTCCTCACCGGCTACGAGGTCAAGGTGAGCAGGGTT

Altered gDNA sequence snippet

TGAAGTTCCTCACCGGCTACCAGGTCAAGGTGAGCAGGGTT

Original cDNA sequence snippet

TGAAGTTCCTCACCGGCTACGAGGTCAAGGTCATGGAAGAC

Altered cDNA sequence snippet

TGAAGTTCCTCACCGGCTACCAGGTCAAGGTCATGGAAGAC

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 EMKFLTGYQV KVMEDAHLDA ILILGEAFAS DEPFDFGTQS TTEKIHNLIP
VMLRHRLVPP PEETYSLHRK MGGSFLICSK LKARFPCKAM FEEAYSNYCK RQAQQ*

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

Position of start ATG in wt / mu cDNA

149 / 149

Last intron/exon boundary

1651

Theoretical NMD boundary in CDS

1452

Length of CDS

1788

Coding sequence (CDS) position

1495

cDNA position

1643

gDNA position

45047

Chromosomal position

226985332

Speed

0.04 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table