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: ENST00000309403
MT speed 0 s - this script 2.522521 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
OR5B3	polymorphism_automatic	8.649360117019e-10	simple_aae		affected		G247A	single base exchange	rs11229409		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999135064 (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)

chr11:58170143C>GN/A show variant in all transcripts IGV

HGNC symbol

OR5B3

Ensembl transcript ID

ENST00000309403

Genbank transcript ID

NM_001005469

UniProt peptide

Q8NH48

alteration type

single base exchange

alteration region

CDS

DNA changes

c.740G>C
cDNA.740G>C
g.740G>C

AA changes

G247A Score: 60 explain score(s)

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

247

frameshift

known variant

Reference ID: rs11229409

database	homozygous (G/G)	heterozygous	allele carriers
1000G	235	983	1218
ExAC	6496	19775	26271

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.538	0.329
	0.723	0.177
(flanking)	-0.393	0.001

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	734	wt: 0.7433 / mu: 0.7840 (marginal change - not scored)	wt: CTGTGCCTCTCATTTCATTGCAGTCGGCATCTTCTATGGGA mu: CTGTGCCTCTCATTTCATTGCAGTCGCCATCTTCTATGGGA	ttgc\|AGTC
Acc gained	750	0.33	mu: ATTGCAGTCGCCATCTTCTATGGGACTATTATCTTCATGTA	ctat\|GGGA
Acc gained	749	0.42	mu: CATTGCAGTCGCCATCTTCTATGGGACTATTATCTTCATGT	tcta\|TGGG

distance from splice site

207

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

247

mutated

not conserved

247

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000011708

247

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000062199

247

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
236	256	TRANSMEM	Helical; Name=6; (Potential).	lost
257	269	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
270	290	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
291	314	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

945 / 945

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

315 / 315

position of stopcodon in wt / mu cDNA

945 / 945

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

-1

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

945

coding sequence (CDS) position

740

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

740

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

740

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

58170143

original gDNA sequence snippet

CTCTCATTTCATTGCAGTCGGCATCTTCTATGGGACTATTA

altered gDNA sequence snippet

CTCTCATTTCATTGCAGTCGCCATCTTCTATGGGACTATTA

original cDNA sequence snippet

CTCTCATTTCATTGCAGTCGGCATCTTCTATGGGACTATTA

altered cDNA sequence snippet

CTCTCATTTCATTGCAGTCGCCATCTTCTATGGGACTATTA

wildtype AA sequence

MENKTEVTQF ILLGLTNDSE LQVPLFITFP FIYIITLVGN LGIIVLIFWD SCLHNPMYFF
LSNLSLVDFC YSSAVTPIVM AGFLIEDKVI SYNACAAQMY IFVAFATVEN YLLASMAYDR
YAAVCKPLHY TTTMTTTVCA RLAIGSYLCG FLNASIHTGD TFSLSFCKSN EVHHFFCDIP
AVMVLSCSDR HISELVLIYV VSFNIFIALL VILISYTFIF ITILKMHSAS VYQKPLSTCA
SHFIAVGIFY GTIIFMYLQP SSSHSMDTDK MAPVFYTMVI PMLNPLVYSL RNKEVKSAFK
KVVEKAKLSV GWSV*

mutated AA sequence

MENKTEVTQF ILLGLTNDSE LQVPLFITFP FIYIITLVGN LGIIVLIFWD SCLHNPMYFF
LSNLSLVDFC YSSAVTPIVM AGFLIEDKVI SYNACAAQMY IFVAFATVEN YLLASMAYDR
YAAVCKPLHY TTTMTTTVCA RLAIGSYLCG FLNASIHTGD TFSLSFCKSN EVHHFFCDIP
AVMVLSCSDR HISELVLIYV VSFNIFIALL VILISYTFIF ITILKMHSAS VYQKPLSTCA
SHFIAVAIFY GTIIFMYLQP SSSHSMDTDK MAPVFYTMVI PMLNPLVYSL RNKEVKSAFK
KVVEKAKLSV GWSV*

speed

0.47 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