MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000303037
MT speed 0 s - this script 3.383547 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
CTRB2	polymorphism_automatic	7.02901643240272e-05	simple_aae		affected		A250T	single base exchange	rs4737		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999929709835676 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
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)

chr16:75238103C>TN/A show variant in all transcripts IGV

HGNC symbol

CTRB2

Ensembl transcript ID

ENST00000303037

Genbank transcript ID

NM_001025200

UniProt peptide

Q6GPI1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.748G>A
cDNA.792G>A
g.2981G>A

AA changes

A250T Score: 58 explain score(s)

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

250

frameshift

known variant

Reference ID: rs4737

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1780	591	2371
ExAC	-	-	-

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.688	0.997
	1.967	1
(flanking)	2.84	1

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 marginally increased	2984	wt: 0.2514 / mu: 0.3280 (marginal change - not scored)	wt: CTGTGTACGCCCGTGTCGCCAAGCTCATACCCTGGGTGCAG mu: CTGTGTACGCCCGTGTCACCAAGCTCATACCCTGGGTGCAG	gcca\|AGCT
Donor increased	2972	wt: 0.37 / mu: 0.45	wt: TGTACGCCCGTGTCG mu: TGTACGCCCGTGTCA	TACG\|cccg

distance from splice site

110

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

250

mutated

not conserved

250

Ptroglodytes

not conserved

ENSPTRG00000008355

250

Mmulatta

not conserved

ENSMMUG00000002629

249

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000031957

250

Ggallus

not conserved

ENSGALG00000000038

151

Trubripes

not conserved

ENSTRUG00000004182

251

Drerio

not conserved

ENSDARG00000093844

250

Dmelanogaster

not conserved

FBgn0035670

273

Celegans

all conserved

C43G2.5

272

Xtropicalis

not conserved

ENSXETG00000026902

251

protein features

start (aa)	end (aa)	feature	details
34	261	DOMAIN	Peptidase S1.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

792 / 792

position (AA) of stopcodon in wt / mu AA sequence

264 / 264

position of stopcodon in wt / mu cDNA

836 / 836

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

45 / 45

chromosome

strand

-1

last intron/exon boundary

675

theoretical NMD boundary in CDS

580

length of CDS

792

coding sequence (CDS) position

748

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

792

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

2981

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

75238103

original gDNA sequence snippet

CCGCTGTGTACGCCCGTGTCGCCAAGCTCATACCCTGGGTG

altered gDNA sequence snippet

CCGCTGTGTACGCCCGTGTCACCAAGCTCATACCCTGGGTG

original cDNA sequence snippet

CCGCTGTGTACGCCCGTGTCGCCAAGCTCATACCCTGGGTG

altered cDNA sequence snippet

CCGCTGTGTACGCCCGTGTCACCAAGCTCATACCCTGGGTG

wildtype AA sequence

MAFLWLLSCW ALLGTTFGCG VPAIHPVLSG LSRIVNGEDA VPGSWPWQVS LQDKTGFHFC
GGSLISEDWV VTAAHCGVRT SDVVVAGEFD QGSDEENIQV LKIAKVFKNP KFSILTVNND
ITLLKLATPA RFSQTVSAVC LPSADDDFPA GTLCATTGWG KTKYNANKTP DKLQQAALPL
LSNAECKKSW GRRITDVMIC AGASGVSSCM GDSGGPLVCQ KDGAWTLVGI VSWGSRTCST
TTPAVYARVA KLIPWVQKIL AAN*

mutated AA sequence

speed

1.37 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
back to results table

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

Problems