mutation t@sting

Prediction

disease causing

Model: simple_aae, prob: 0.99999999257861 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM032558)
known disease mutation: rs7523 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:14005522C>AN/A show variant in all transcripts IGV

HGNC symbol

COX10

Ensembl transcript ID

ENST00000261643

Genbank transcript ID

NM_001303

UniProt peptide

Q12887

alteration type

single base exchange

alteration region

CDS

DNA changes

c.587C>A
cDNA.664C>A
g.32710C>A

AA changes

T196K Score: 78 explain score(s)

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

196

frameshift

known variant

Reference ID: rs104894555
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs7523 (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 CM032558)

known disease mutation at this position, please check HGMD for details (HGMD ID CM032558)
known disease mutation at this position, please check HGMD for details (HGMD ID CM032558)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.403	1
	5.319	1
(flanking)	-1.255	0.66

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	32700	wt: 0.9609 / mu: 0.9737 (marginal change - not scored)	wt: GGCCCTGTTTCCTGCTTACTTCTGTTGGGACAGGCCTTGCA mu: GGCCCTGTTTCCTGCTTACTTCTGTTGGGAAAGGCCTTGCA	actt\|CTGT
Acc increased	32701	wt: 0.55 / mu: 0.61	wt: GCCCTGTTTCCTGCTTACTTCTGTTGGGACAGGCCTTGCAT mu: GCCCTGTTTCCTGCTTACTTCTGTTGGGAAAGGCCTTGCAT	cttc\|TGTT
Donor marginally increased	32707	wt: 0.6992 / mu: 0.7410 (marginal change - not scored)	wt: TGTTGGGACAGGCCT mu: TGTTGGGAAAGGCCT	TTGG\|gaca
Donor gained	32706	0.99	mu: CTGTTGGGAAAGGCC	GTTG\|ggaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

196

mutated

not conserved

196

Ptroglodytes

all identical

ENSPTRG00000008790

196

Mmulatta

all identical

ENSMMUG00000016157

196

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000042148

195

Ggallus

all identical

ENSGALG00000001375

188

Trubripes

no homologue

Drerio

all identical

ENSDARG00000034309

193

Dmelanogaster

all identical

FBgn0032222

111

Celegans

all identical

Y46G5A.2

131

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
174	194	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
235	255	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
257	277	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
280	300	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
303	303	CONFLICT	A -> T (in Ref. 1; AAA21148).	might get lost (downstream of altered splice site)
309	329	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
364	384	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
394	394	CONFLICT	Y -> H (in Ref. 1; AAA21148).	might get lost (downstream of altered splice site)
411	431	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1332 / 1332

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

444 / 444

position of stopcodon in wt / mu cDNA

1409 / 1409

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

78 / 78

chromosome

strand

last intron/exon boundary

1006

theoretical NMD boundary in CDS

878

length of CDS

1332

coding sequence (CDS) position

587

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

664

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

32710

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

14005522

original gDNA sequence snippet

CCTGCTTACTTCTGTTGGGACAGGCCTTGCATCCTGTGCTG

altered gDNA sequence snippet

CCTGCTTACTTCTGTTGGGAAAGGCCTTGCATCCTGTGCTG

original cDNA sequence snippet

CCTGCTTACTTCTGTTGGGACAGGCCTTGCATCCTGTGCTG

altered cDNA sequence snippet

CCTGCTTACTTCTGTTGGGAAAGGCCTTGCATCCTGTGCTG

wildtype AA sequence

MAASPHTLSS RLLTGCVGGS VWYLERRTIQ DSPHKFLHLL RNVNKQWITF QHFSFLKRMY
VTQLNRSHNQ QVRPKPEPVA SPFLEKTSSG QAKAEIYEMR PLSPPSLSLS RKPNEKELIE
LEPDSVIEDS IDVGKETKEE KRWKEMKLQV YDLPGILARL SKIKLTALVV STTAAGFALA
PGPFDWPCFL LTSVGTGLAS CAANSINQFF EVPFDSNMNR TKNRPLVRGQ ISPLLAVSFA
TCCAVPGVAI LTLGVNPLTG ALGLFNIFLY TCCYTPLKRI SIANTWVGAV VGAIPPVMGW
TAATGSLDAG AFLLGGILYS WQFPHFNALS WGLREDYSRG GYCMMSVTHP GLCRRVALRH
CLALLVLSAA APVLDITTWT FPIMALPINA YISYLGFRFY VDADRRSSRR LFFCSLWHLP
LLLLLMLTCK RPSGGGDAGP PPS*

mutated AA sequence

MAASPHTLSS RLLTGCVGGS VWYLERRTIQ DSPHKFLHLL RNVNKQWITF QHFSFLKRMY
VTQLNRSHNQ QVRPKPEPVA SPFLEKTSSG QAKAEIYEMR PLSPPSLSLS RKPNEKELIE
LEPDSVIEDS IDVGKETKEE KRWKEMKLQV YDLPGILARL SKIKLTALVV STTAAGFALA
PGPFDWPCFL LTSVGKGLAS CAANSINQFF EVPFDSNMNR TKNRPLVRGQ ISPLLAVSFA
TCCAVPGVAI LTLGVNPLTG ALGLFNIFLY TCCYTPLKRI SIANTWVGAV VGAIPPVMGW
TAATGSLDAG AFLLGGILYS WQFPHFNALS WGLREDYSRG GYCMMSVTHP GLCRRVALRH
CLALLVLSAA APVLDITTWT FPIMALPINA YISYLGFRFY VDADRRSSRR LFFCSLWHLP
LLLLLMLTCK RPSGGGDAGP PPS*

speed

1.30 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