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: ENST00000303039
MT speed 0 s - this script 2.776389 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
OR8J1	polymorphism_automatic	0.410341252894342	simple_aae				Y120C	single base exchange	rs10896290		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.589658747105658 (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)

chr11:56128081A>GN/A show variant in all transcripts IGV

HGNC symbol

OR8J1

Ensembl transcript ID

ENST00000303039

Genbank transcript ID

NM_001005205

UniProt peptide

Q8NGP2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.359A>G
cDNA.391A>G
g.391A>G

AA changes

Y120C Score: 194 explain score(s)

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

120

frameshift

known variant

Reference ID: rs10896290

database	homozygous (G/G)	heterozygous	allele carriers
1000G	134	835	969
ExAC	5187	22393	27580

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	4.184	1
	1.674	1
(flanking)	1.249	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
Donor marginally increased	396	wt: 0.9648 / mu: 0.9720 (marginal change - not scored)	wt: ATGACCGCTATGTGG mu: GTGACCGCTATGTGG	GACC\|gcta

distance from splice site

391

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

120

mutated

not conserved

120

Ptroglodytes

all identical

ENSPTRG00000003632

120

Mmulatta

no homologue

Fcatus

all identical

ENSFCAG00000010071

120

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
100	120	TRANSMEM	Helical; Name=3; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

951 / 951

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

317 / 317

position of stopcodon in wt / mu cDNA

983 / 983

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

33 / 33

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

951

coding sequence (CDS) position

359

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

391

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

391

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

56128081

original gDNA sequence snippet

CATGCTGGCTTTGATGGCCTATGACCGCTATGTGGCTATTT

altered gDNA sequence snippet

CATGCTGGCTTTGATGGCCTGTGACCGCTATGTGGCTATTT

original cDNA sequence snippet

CATGCTGGCTTTGATGGCCTATGACCGCTATGTGGCTATTT

altered cDNA sequence snippet

CATGCTGGCTTTGATGGCCTGTGACCGCTATGTGGCTATTT

wildtype AA sequence

MAPENFTRVT EFILTGVSSC PELQIPLFLV FLVLYGLTMA GNLGIITLTS VDSRLQTPMY
FFLQHLALIN LGNSTVIAPK MLINFLVKKK TTSFYECATQ LGGFLFFIVS EVIMLALMAY
DRYVAICNPL LYMVVVSRRL CLLLVSLTYL YGFSTAIVVS SYVFSVSYCS SNIINHFYCD
NVPLLALSCS DTYLPETVVF ISAATNVVGS LIIVLVSYFN IVLSILKICS SEGRKKAFST
CASHMMAVTI FYGTLLFMYV QPRSNHSLDT DDKMASVFYT LVIPMLNPLI YSLRNKDVKT
ALQRFMTNLC YSFKTM*

mutated AA sequence

MAPENFTRVT EFILTGVSSC PELQIPLFLV FLVLYGLTMA GNLGIITLTS VDSRLQTPMY
FFLQHLALIN LGNSTVIAPK MLINFLVKKK TTSFYECATQ LGGFLFFIVS EVIMLALMAC
DRYVAICNPL LYMVVVSRRL CLLLVSLTYL YGFSTAIVVS SYVFSVSYCS SNIINHFYCD
NVPLLALSCS DTYLPETVVF ISAATNVVGS LIIVLVSYFN IVLSILKICS SEGRKKAFST
CASHMMAVTI FYGTLLFMYV QPRSNHSLDT DDKMASVFYT LVIPMLNPLI YSLRNKDVKT
ALQRFMTNLC YSFKTM*

speed

0.76 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