mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999994 (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)

chr12:10137557A>CN/A show variant in all transcripts IGV

HGNC symbol

CLEC12A

Ensembl transcript ID

ENST00000355690

Genbank transcript ID

NM_001207010

UniProt peptide

Q5QGZ9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.760A>C
cDNA.791A>C
g.33643A>C

AA changes

K254Q Score: 53 explain score(s)

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

254

frameshift

known variant

Reference ID: rs479499

database	homozygous (C/C)	heterozygous	allele carriers
1000G	1384	925	2309
ExAC	14239	4289	18528

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.294	0
	-1.999	0
(flanking)	-0.159	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
Acc increased	33641	wt: 0.28 / mu: 0.36	wt: ATATTATCACTGCACTTATAAAAAAAGAATGATATGTGAGA mu: ATATTATCACTGCACTTATAAACAAAGAATGATATGTGAGA	ataa\|AAAA
Acc increased	33637	wt: 0.21 / mu: 0.29	wt: TTCAATATTATCACTGCACTTATAAAAAAAGAATGATATGT mu: TTCAATATTATCACTGCACTTATAAACAAAGAATGATATGT	actt\|ATAA
Acc increased	33635	wt: 0.26 / mu: 0.40	wt: TGTTCAATATTATCACTGCACTTATAAAAAAAGAATGATAT mu: TGTTCAATATTATCACTGCACTTATAAACAAAGAATGATAT	gcac\|TTAT
Donor increased	33645	wt: 0.51 / mu: 0.59	wt: AAAAAAAGAATGATA mu: AAACAAAGAATGATA	AAAA\|agaa

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

254

mutated

all conserved

254

Ptroglodytes

all conserved

ENSPTRG00000039976

254

Mmulatta

all identical

ENSMMUG00000002956

244

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000053063

242

Ggallus

all conserved

ENSGALG00000014722

221

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
65	265	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

828 / 828

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

276 / 276

position of stopcodon in wt / mu cDNA

859 / 859

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

32 / 32

chromosome

strand

last intron/exon boundary

703

theoretical NMD boundary in CDS

621

length of CDS

828

coding sequence (CDS) position

760

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

791

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

33643

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

10137557

original gDNA sequence snippet

ATTATCACTGCACTTATAAAAAAAGAATGATATGTGAGAAG

altered gDNA sequence snippet

ATTATCACTGCACTTATAAACAAAGAATGATATGTGAGAAG

original cDNA sequence snippet

ATTATCACTGCACTTATAAAAAAAGAATGATATGTGAGAAG

altered cDNA sequence snippet

ATTATCACTGCACTTATAAACAAAGAATGATATGTGAGAAG

wildtype AA sequence

MWIDFFTYSS MSEEVTYADL QFQNSSEMEK IPEIGKFGEK APPAPSHVWR PAALFLTLLC
LLLLIGLGVL ASMFHVTLKI EMKKMNKLQN ISEELQRNIS LQLMSNMNIS NKIRNLSTTL
QTIATKLCRE LYSKEQEHKC KPCPRRWIWH KDSCYFLSDD VQTWQESKMA CAAQNASLLK
INNKNALEFI KSQSRSYDYW LGLSPEEDST RGMRVDNIIN SSAWVIRNAP DLNNMYCGYI
NRLYVQYYHC TYKKRMICEK MANPVQLGST YFREA*

mutated AA sequence

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