mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.999999981384433 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM032559)
known disease mutation: rs7524 (pathogenic)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:14063243C>TN/A show variant in all transcripts IGV

HGNC symbol

COX10

Ensembl transcript ID

ENST00000536205

Genbank transcript ID

N/A

UniProt peptide

Q12887

alteration type

single base exchange

alteration region

CDS

DNA changes

c.98C>T
cDNA.551C>T
g.90431C>T

AA changes

P33L Score: 98 explain score(s)

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

frameshift

known variant

Reference ID: rs104894556

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

known disease mutation: rs7524 (pathogenic for Mitochondrial complex 4 deficiency, nuclear type 3) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM032559)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032559)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032559)

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.581	1
	4.581	1
(flanking)	-0.113	0.993

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

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

all identical

ENSPTRG00000008790

225

Mmulatta

all identical

ENSMMUG00000016157

225

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000042148

224

Ggallus

all identical

ENSGALG00000001375

217

Trubripes

no homologue

Drerio

all identical

ENSDARG00000034309

222

Dmelanogaster

not conserved

FBgn0032222

144

Celegans

not conserved

Y46G5A.2

160

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

756 / 756

position (AA) of stopcodon in wt / mu AA sequence

252 / 252

position of stopcodon in wt / mu cDNA

1209 / 1209

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

454 / 454

chromosome

strand

last intron/exon boundary

806

theoretical NMD boundary in CDS

302

length of CDS

756

coding sequence (CDS) position

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

551

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

90431

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

14063243

original gDNA sequence snippet

GAATAGGACAAAGAACAGACCGCTGGTTCGTGGACAGATCA

altered gDNA sequence snippet

GAATAGGACAAAGAACAGACTGCTGGTTCGTGGACAGATCA

original cDNA sequence snippet

GAATAGGACAAAGAACAGACCGCTGGTTCGTGGACAGATCA

altered cDNA sequence snippet

GAATAGGACAAAGAACAGACTGCTGGTTCGTGGACAGATCA

wildtype AA sequence

MICQEFWLDY PKSNSQFFEV PFDSNMNRTK NRPLVRGQIS PLLAVSFATC CAVPGVAILT
LGVNPLTGAL GLFNIFLYTC CYTPLKRISI ANTWVGAVVG AIPPVMGWTA ATGSLDAGAF
LLGGILYSWQ FPHFNALSWG LREDYSRGGY CMMSVTHPGL CRRVALRHCL ALLVLSAAAP
VLDITTWTFP IMALPINAYI SYLGFRFYVD ADRRSSRRLF FCSLWHLPLL LLLMLTCKRP
SGGGDAGPPP S*

mutated AA sequence

MICQEFWLDY PKSNSQFFEV PFDSNMNRTK NRLLVRGQIS PLLAVSFATC CAVPGVAILT
LGVNPLTGAL GLFNIFLYTC CYTPLKRISI ANTWVGAVVG AIPPVMGWTA ATGSLDAGAF
LLGGILYSWQ FPHFNALSWG LREDYSRGGY CMMSVTHPGL CRRVALRHCL ALLVLSAAAP
VLDITTWTFP IMALPINAYI SYLGFRFYVD ADRRSSRRLF FCSLWHLPLL LLLMLTCKRP
SGGGDAGPPP S*

speed

0.65 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