mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 2.04013373683515e-19 (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)

chr5:141019110C>AN/A show variant in all transcripts IGV

HGNC symbol

ARAP3

Ensembl transcript ID

ENST00000522690

Genbank transcript ID

N/A

UniProt peptide

Q8WWN8

alteration type

single base exchange

alteration region

intron

DNA changes

g.42679G>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs14251

database	homozygous (A/A)	heterozygous	allele carriers
1000G	435	1121	1556
ExAC	10624	11519	22143

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.301	1
	2.155	1
(flanking)	3.492	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

splice site change occurs after stopcodon (at aa 788)

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	42670	wt: 0.7315 / mu: 0.7906 (marginal change - not scored)	wt: GCGGCTGCAATGGAG mu: GCGGCTGCAATGGAT	GGCT\|gcaa
Donor marginally increased	42679	wt: 0.9101 / mu: 0.9238 (marginal change - not scored)	wt: ATGGAGGCAAGGGGC mu: ATGGATGCAAGGGGC	GGAG\|gcaa
Donor increased	42674	wt: 0.42 / mu: 0.74	wt: CTGCAATGGAGGCAA mu: CTGCAATGGATGCAA	GCAA\|tgga

distance from splice site

5602

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

222 / 222

chromosome

strand

-1

last intron/exon boundary

2585

theoretical NMD boundary in CDS

2313

length of CDS

1173

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)

42679

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

141019110

original gDNA sequence snippet

CTTGCTGCGGCTGCAATGGAGGCAAGGGGCTGCAGAGCCCA

altered gDNA sequence snippet

CTTGCTGCGGCTGCAATGGATGCAAGGGGCTGCAGAGCCCA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MEPSPSPAPQ AQPPKPVPKP RTVFGGLSGP ATTQRPGLSP ALGGPGVSRS PEPSPRPPPL
PTSSSEQSSA LNTVEMMPNS IYFGLDSRGR AQAAQDKAPD SSQISAPTPA LRPTTGTVHI
MDPGCLYYGV QPVGTPGAPD RRESRGVCQG RAEHRQDLEA REDAGYASLE LPGDSTLLSP
TLETEETSDD LISPYASFSF TADRLTPLLS GWLDKLSPQG NYVFQRRFVQ FNGRSLMYFG
SDKDPFPKGV IPLTAIEMTR SSKDNKFQVI TGQRVFVFRT ESEAQRDMWC STLQSCLKEQ
RLLGHPRPPQ PPRPLRTGML ELRGHKAKVF AALSPGELAL YKSEQAFSLG IGICFIELQG
CSVRETKSRS FDLLTPHRCF RAGRPLCRKQ *

mutated AA sequence

N/A

speed

1.09 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