mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999961952209867 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

ENST00000374377

Genbank transcript ID

N/A

UniProt peptide

Q9NVA1

alteration type

single base exchange

alteration region

intron

DNA changes

g.28031G>A

AA changes

N/A

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

N/A

frameshift

N/A

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

9981

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

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

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

70 / 70

chromosome

strand

-1

last intron/exon boundary

499

theoretical NMD boundary in CDS

379

length of CDS

564

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)

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

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MQPIDTCVSY PRTGGQGSVS HFPGCQMPDT FNSWFLITLL HVWMCLVRMK QEGRSGKYMC
RIIVHFMWED VQQRGRVMGV NPYILKKNMI LMTNHFYAAI LGYDEGILSD DHGLAAALWR
TFFNRKCEDP RHLELLVEYV RKQIQYLDSM NGEDLLLTGE VSWRPLVEKN PQSILKPHSP
TYNDEGL*

mutated AA sequence

N/A

speed

0.88 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