mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999962345268 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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

ENST00000207771

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.3289G>A

AA changes

N/A

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

N/A

frameshift

N/A

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

2544

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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

74 / 74

chromosome

strand

-1

last intron/exon boundary

1448

theoretical NMD boundary in CDS

1324

length of CDS

1503

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)

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

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MIISHFPKCV AVFALLALSV GALDTFIAAV YEHAVILPNR TETPVSKEEA LLLMNKNIDV
LEKAVKLAAK QGAHIIVTPE DGIYGWIFTR ESIYPYLEDI PDPGVNWIPC RDPWRFGNTP
VQQRLSCLAK DNSIYVVANI GDKKPCNASD SQCPPDGRYQ YNTDVVFDSQ GKLLARYHKY
NLFAPEIQFD FPKDSELVTF DTPFGKFGIF TCFDIFSHDP AVVVVDESID SILYPTAWYN
TLPLLSAVPF HSAWAKAMGV NLLAANTHNT SMHMTGSGIY APEAVKVYHY DMETESGQLL
LSELKSRPRR EPTYPAAVDW HAYASSVKPF SSEQSDFLGM IYFDEFTFTK LKRNTGNYTA
CQKDLCCHLT YKMSEKRTDE IYALGAFDGL HTVEGQYYLQ ICALLKCQTT DLETCGEPVG
SAFTKFEDFS LSGTFGTRYV FPQIILSGSQ LAPERHYEIS RDGRLRSRSG APLPVLVMAL
YGRVFEKDPP RLGQGSGKFQ *

mutated AA sequence

N/A

speed

0.85 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