mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999956569 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr20:33971914C>TN/A show variant in all transcripts IGV

HGNC symbol

UQCC1

Ensembl transcript ID

ENST00000397554

Genbank transcript ID

N/A

UniProt peptide

Q9NVA1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.152G>A
cDNA.163G>A
g.28031G>A

AA changes

R51Q Score: 43 explain score(s)

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

frameshift

known variant

Reference ID: rs4911494

database	homozygous (T/T)	heterozygous	allele carriers
1000G	797	1048	1845
ExAC	20877	-8987	11890

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.472	0.005
	-1.486	0
(flanking)	-0.04	0

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
Donor increased	28036	wt: 0.41 / mu: 0.56	wt: GAGCATGTGGTGGAT mu: AAGCATGTGGTGGAT	GCAT\|gtgg
Donor increased	28031	wt: 0.29 / mu: 0.82	wt: GTCCCGAGCATGTGG mu: GTCCCAAGCATGTGG	CCCG\|agca
Donor increased	28027	wt: 0.46 / mu: 0.87	wt: GCCAGTCCCGAGCAT mu: GCCAGTCCCAAGCAT	CAGT\|cccg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all identical

ENSPTRG00000013438

Mmulatta

all identical

ENSMMUG00000010403

Fcatus

not conserved

ENSFCAG00000006432

Mmusculus

all identical

ENSMUSG00000005882

Ggallus

all conserved

ENSGALG00000001799

QFQL

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000068176

n/a

Dmelanogaster

no alignment

FBgn0035722

n/a

Celegans

no alignment

C35D10.5

n/a

Xtropicalis

no alignment

ENSXETG00000019787

n/a

protein features

start (aa)	end (aa)	feature	details
134	134	CONFLICT	F -> L (in Ref. 2; BAB14217 and 4; BC008871).	might get lost (downstream of altered splice site)
135	136	CONFLICT	LR -> MG (in Ref. 2; BAB14217).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

666 / 666

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

222 / 222

position of stopcodon in wt / mu cDNA

677 / 677

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

12 / 12

chromosome

strand

-1

last intron/exon boundary

476

theoretical NMD boundary in CDS

414

length of CDS

666

coding sequence (CDS) position

152

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

163

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

28031

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

33971914

original gDNA sequence snippet

GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC

altered gDNA sequence snippet

GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC

original cDNA sequence snippet

GCCCCAGATGAGCCAGTCCCGAGCATGTGGTGGATCAGAAC

altered cDNA sequence snippet

GCCCCAGATGAGCCAGTCCCAAGCATGTGGTGGATCAGAAC

wildtype AA sequence

MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS RACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WKIKIAALRM
YTSCVEKTDF EEFFLRCQMP DTFNSWFLIT LLHVWMCLVR MKQEGRSGKY MCRIIVHFMW
EDVQQRGRVM GVSECCQMLV LDNSREGFEF GVLSVVKWPC F*

mutated AA sequence

MALLVRVLRN QTSISQWVPV CSRLIPVSPT QGQGDRALSR TSQWPQMSQS QACGGSEQIP
GIDIQLNRKY HTTRKLSTTK DSPQPVEEKV GAFTKIIEAM GFTGPLKYSK WKIKIAALRM
YTSCVEKTDF EEFFLRCQMP DTFNSWFLIT LLHVWMCLVR MKQEGRSGKY MCRIIVHFMW
EDVQQRGRVM GVSECCQMLV LDNSREGFEF GVLSVVKWPC F*

speed

1.19 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