mutation t@sting

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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

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

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

	PhyloP	PhastCons
(flanking)	0.044	0.995
	1.803	1
(flanking)	4.699	1

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

strand

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

0.99 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