mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.872673479143236 (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)

chr3:187446211C>TN/A show variant in all transcripts IGV

HGNC symbol

LOC100131635

Ensembl transcript ID

ENST00000437407

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.26111C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2229362

database	homozygous (T/T)	heterozygous	allele carriers
1000G	145	637	782
ExAC	1685	13750	15435

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.774	0.08
	-0.072	0.002
(flanking)	-1.633	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
Donor marginally increased	26114	wt: 0.8309 / mu: 0.8483 (marginal change - not scored)	wt: AGCGGTGTGGAGGCA mu: AGTGGTGTGGAGGCA	CGGT\|gtgg
Donor gained	26104	0.37	mu: ACGTGGGGCCAGTGG	GTGG\|ggcc

distance from splice site

3948

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

165 / 165

chromosome

strand

last intron/exon boundary

294

theoretical NMD boundary in CDS

length of CDS

153

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)

26111

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

187446211

original gDNA sequence snippet

CTCAGGGAACGTGGGGCCAGCGGTGTGGAGGCACATCTCTG

altered gDNA sequence snippet

CTCAGGGAACGTGGGGCCAGTGGTGTGGAGGCACATCTCTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MCYELDSIRI LTTGSKSESS GEQEAECLKS SYGTELLDET ISGNLAMNDK *

mutated AA sequence

N/A

speed

0.81 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