mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998455 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:133052616C>TN/A show variant in all transcripts IGV

HGNC symbol

VNN3

Ensembl transcript ID

ENST00000392393

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

CDS

DNA changes

c.395G>A
cDNA.468G>A
g.3289G>A

AA changes

C132Y Score: 194 explain score(s)

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

132

frameshift

known variant

Reference ID: rs4895943

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1100	943	2043
ExAC	21193	-9619	11574

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.284	0
	-1.893	0
(flanking)	0.027	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	3289	wt: 0.21 / mu: 0.26	wt: CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT mu: CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT	actg\|TCAT
Acc gained	3292	0.32	mu: AGAGCTTTGCTATCACTATCATTCAGAATGCAATCAATATG	atca\|TTCA

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

132

mutated

not conserved

132

Ptroglodytes

no alignment

ENSPTRG00000018614

n/a

Mmulatta

no alignment

ENSMMUG00000015090

n/a

Fcatus

no alignment

ENSFCAG00000011134

n/a

Mmusculus

no alignment

ENSMUSG00000020010

n/a

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no alignment

FBgn0040069

n/a

Celegans

no homologue

Xtropicalis

no homologue

protein features

N/A

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

444 / 444

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

148 / 148

position of stopcodon in wt / mu cDNA

517 / 517

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

74 / 74

chromosome

strand

-1

last intron/exon boundary

1475

theoretical NMD boundary in CDS

1351

length of CDS

444

coding sequence (CDS) position

395

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

468

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

3289

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

133052616

original gDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered gDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

original cDNA sequence snippet

CAAAGAGCTTTGCTATCACTGTCATTCAGAATGCAATCAAT

altered cDNA sequence snippet

CAAAGAGCTTTGCTATCACTATCATTCAGAATGCAATCAAT

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWRKSKKM
NEPVSKELCY HCHSECNQYG QWKLYRT*

mutated AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWRKSKKM
NEPVSKELCY HYHSECNQYG QWKLYRT*

speed

0.95 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