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: ENST00000291231
MT speed 0 s - this script 2.115105 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
OR3A3	polymorphism_automatic	3.94395627267841e-12	simple_aae				K317E	single base exchange	rs227787		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996056 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:3324810A>GN/A show variant in all transcripts IGV

HGNC symbol

OR3A3

Ensembl transcript ID

ENST00000291231

Genbank transcript ID

NM_012373

UniProt peptide

P47888

alteration type

single base exchange

alteration region

CDS

DNA changes

c.949A>G
cDNA.949A>G
g.949A>G

AA changes

K317E Score: 56 explain score(s)

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

317

frameshift

known variant

Reference ID: rs227787

database	homozygous (G/G)	heterozygous	allele carriers
1000G	310	1103	1413
ExAC	5333	21406	26739

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.171	0
	0.703	0.001
(flanking)	-0.619	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 marginally increased	946	wt: 0.7183 / mu: 0.7504 (marginal change - not scored)	wt: CTCTGTGTCAGCTACTTGTGGGGAAGCGATCACTGACCTGA mu: CTCTGTGTCAGCTACTTGTGGGGGAGCGATCACTGACCTGA	gtgg\|GGAA
Acc marginally increased	942	wt: 0.3910 / mu: 0.4359 (marginal change - not scored)	wt: GGCGCTCTGTGTCAGCTACTTGTGGGGAAGCGATCACTGAC mu: GGCGCTCTGTGTCAGCTACTTGTGGGGGAGCGATCACTGAC	actt\|GTGG
Acc marginally increased	939	wt: 0.2566 / mu: 0.2692 (marginal change - not scored)	wt: CAGGGCGCTCTGTGTCAGCTACTTGTGGGGAAGCGATCACT mu: CAGGGCGCTCTGTGTCAGCTACTTGTGGGGGAGCGATCACT	gcta\|CTTG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

317

mutated

all conserved

317

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000011056

312

Fcatus

all identical

ENSFCAG00000015748

317

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
302	321	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

966 / 966

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

322 / 322

position of stopcodon in wt / mu cDNA

966 / 966

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

1 / 1

chromosome

strand

last intron/exon boundary

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

966

coding sequence (CDS) position

949

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

949

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

949

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

3324810

original gDNA sequence snippet

TGTGTCAGCTACTTGTGGGGAAGCGATCACTGACCTGA

altered gDNA sequence snippet

TGTGTCAGCTACTTGTGGGGGAGCGATCACTGACCTGA

original cDNA sequence snippet

TGTGTCAGCTACTTGTGGGGAAGCGATCACTGACCTGA

altered cDNA sequence snippet

TGTGTCAGCTACTTGTGGGGGAGCGATCACTGACCTGA

wildtype AA sequence

MSLQKLMEPE AGTNRTAVAE FILLGLVQTE EMQPVVFVLL LFAYLVTTGG NLSILAAVLV
EPKLHAPMYF FLGNLSVLDV GCITVTVPAM LGRLLSHKST ISYDACLSQL FFFHLLAGMD
CFLLTAMAYD RLLAICQPLT YSTRMSQTVQ RMLVAASWAC AFTNALTHTV AMSTLNFCGP
NEVNHFYCDL PQLFQLSCSS TQLNELLLFV AAAFMAVAPL VFISVSYAHV VAAVLQIRSA
EGRKKAFSTC GSHLTVVGIF YGTGVFSYMR LGSVESSDKD KGVGVFMTVI NPMLNPLIYS
LRNTDVQGAL CQLLVGKRSL T*

mutated AA sequence

speed

0.11 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