mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 1.30681713975326e-37 (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)

chr4:122250734A>GN/A show variant in all transcripts IGV

HGNC symbol

QRFPR

Ensembl transcript ID

ENST00000334383

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.950T>C
g.51481T>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2302310

database	homozygous (G/G)	heterozygous	allele carriers
1000G	339	927	1266
ExAC	4990	20089	25079

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.163	0.997
	4.481	1
(flanking)	0.048	0.976

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

splice sites

splice site change occurs after stopcodon (at aa 305)

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	51476	wt: 0.62 / mu: 0.88	wt: AAAAATGTTTTGTCT mu: AAAAATGTTTCGTCT	AAAT\|gttt

distance from splice site

136

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

33 / 33

chromosome

strand

-1

last intron/exon boundary

815

theoretical NMD boundary in CDS

732

length of CDS

777

coding sequence (CDS) position

N/A

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

950

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

51481

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

122250734

original gDNA sequence snippet

AAACTTCAAAAAAAATGTTTTGTCTGCAGTTTGTTATTGCA

altered gDNA sequence snippet

AAACTTCAAAAAAAATGTTTCGTCTGCAGTTTGTTATTGCA

original cDNA sequence snippet

AAACTTCAAAAAAAATGTTTTGTCTGCAGTTTGTTATTGCA

altered cDNA sequence snippet

AAACTTCAAAAAAAATGTTTCGTCTGCAGTTTGTTATTGCA

wildtype AA sequence

MQALNITPEQ FSRLLRDHNL TREQFIALYR LRPLVYTPEL PGRAKLALVL TGVLIFALAL
FGNALVFYVV TRSKAMRTVT NIFICSLALS DLLITFFCIP VTMLQNISDN WLGGAFICKM
VPFVQSTAVV TEILTMTCIA VERHQGLVHP FKMKWQYTNR RAFTMLGVVW LVAVIVGSPM
WHVQQLEIKY DFLYEKEHIC CLEEWTSPVH QKIYTTFILV ILFLLPLMEE ETSCHYDGDS
GGSLCCVLGT IPCCPYDD*

mutated AA sequence

N/A

speed

0.68 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