mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999931413526 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

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)

chr4:1087531T>CN/A show variant in all transcripts IGV

HGNC symbol

RNF212

Ensembl transcript ID

ENST00000433731

Genbank transcript ID

NM_001131034

UniProt peptide

Q495C1

alteration type

single base exchange

alteration region

intron

DNA changes

g.19820A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs615381

database	homozygous (C/C)	heterozygous	allele carriers
1000G	161	566	727
ExAC	98	1081	1179

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.02	0.001
	-1.605	0
(flanking)	-0.543	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	19815	wt: 0.37 / mu: 0.48	wt: ATTCACACCAAGTCCCCTTGGGGCCAGAAGTTGCTTGAGTT mu: ATTCACACCAAGTCCCCTTGGGGCCGGAAGTTGCTTGAGTT	ttgg\|GGCC

distance from splice site

2905

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
91	124	COILED	Potential.	might get lost (downstream of altered splice site)
147	147	CONFLICT	P -> Q (in Ref. 2; AAH50356).	might get lost (downstream of altered splice site)

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

63 / 63

chromosome

strand

-1

last intron/exon boundary

637

theoretical NMD boundary in CDS

524

length of CDS

894

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)

19820

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

1087531

original gDNA sequence snippet

CACCAAGTCCCCTTGGGGCCAGAAGTTGCTTGAGTTCATAA

altered gDNA sequence snippet

CACCAAGTCCCCTTGGGGCCGGAAGTTGCTTGAGTTCATAA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MANWVFCNRC FQPPHRTSCF SLTNCGHVYC DACLGKGKKN ECLICKAPCR TVLLSKHTDA
DIQAFFMSID SLCKKYSRET SQILEFQEKH RKRLLAFYRE KISRLEESLR KSVLQIEQLQ
SMRSSQQTAF STIKSSVSTK PHGCLLPPHS SAPDRLESME VDLSPSPIRK SEIAAGPARI
SMISPPQDGR MGPHLTASFC FIPWLTLSKP PVPGECVISR GSPCFCIDVC PHWLLLLAFS
SGRHGELTNS KTLPIYAEVQ RAVLFPFQQA EGTLDTFRTP AVSVVFPLCQ FERKKSF*

mutated AA sequence

N/A

speed

0.70 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