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: ENST00000354597
MT speed 0 s - this script 3.394599 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
OR8B3	polymorphism_automatic	0.140263059114746	simple_aae		affected		M114I	single base exchange	rs530992		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.859736940885254 (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)

chr11:124266906C>TN/A show variant in all transcripts IGV

HGNC symbol

OR8B3

Ensembl transcript ID

ENST00000354597

Genbank transcript ID

NM_001005467

UniProt peptide

Q8NGG8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.342G>A
cDNA.359G>A
g.359G>A

AA changes

M114I Score: 10 explain score(s)

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

114

frameshift

known variant

Reference ID: rs530992

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	1480	29807	31287

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
Nfe2, Transcription Factor, Nfe2 TF binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.208	0.94
	-0.054	0.667
(flanking)	2.802	0.664

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	349	wt: 0.9692 / mu: 0.9728 (marginal change - not scored)	wt: TCTCTTTTTTGTCATCTCTGAATGTTACATGTTGACCTCAA mu: TCTCTTTTTTGTCATCTCTGAATGTTACATATTGACCTCAA	ctga\|ATGT
Donor increased	351	wt: 0.58 / mu: 0.81	wt: CTGAATGTTACATGT mu: CTGAATGTTACATAT	GAAT\|gtta

distance from splice site

359

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

114

mutated

all conserved

114

Ptroglodytes

all identical

ENSPTRG00000038655

114

Mmulatta

all identical

ENSMMUG00000019587

114

Fcatus

all identical

ENSFCAG00000010917

114

Mmusculus

all identical

ENSMUSG00000046150

127

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
121	139	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
140	160	TRANSMEM	Helical; Name=4; (Potential).	might get lost (downstream of altered splice site)
161	197	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
189	189	DISULFID	By similarity.	might get lost (downstream of altered splice site)
198	217	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
218	237	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
238	258	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)
259	270	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
271	291	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
292	313	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

942 / 942

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

314 / 314

position of stopcodon in wt / mu cDNA

959 / 959

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

18 / 18

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

942

coding sequence (CDS) position

342

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

359

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

359

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

124266906

original gDNA sequence snippet

GTCATCTCTGAATGTTACATGTTGACCTCAATGGCATATGA

altered gDNA sequence snippet

GTCATCTCTGAATGTTACATATTGACCTCAATGGCATATGA

original cDNA sequence snippet

GTCATCTCTGAATGTTACATGTTGACCTCAATGGCATATGA

altered cDNA sequence snippet

GTCATCTCTGAATGTTACATATTGACCTCAATGGCATATGA

wildtype AA sequence

MLARNNSLVT EFILAGLTDH PEFQQPLFFL FLVVYIVTMV GNLGLIILFG LNSHLHTPMY
YFLFNLSFID LCYSSVFTPK MLMNFVSKKN IISYVGCMTQ LFFFLFFVIS ECYMLTSMAY
DRYVAICNPL LYKVTMSHQV CSMLTFAAYI MGLAGATAHT GCMLRLTFCS ANIINHYLCD
ILPLLQLSCT STYVNEVVVL IVVGINIMVP SCTILISYVF IVTSILHIKS TQGRSKAFST
CSSHVIALSL FFGSAAFMYI KYSSGSMEQG KVSSVFYTNV VPMLNPLIYS LRNKDVKVAL
RKALIKIQRR NIF*

mutated AA sequence

MLARNNSLVT EFILAGLTDH PEFQQPLFFL FLVVYIVTMV GNLGLIILFG LNSHLHTPMY
YFLFNLSFID LCYSSVFTPK MLMNFVSKKN IISYVGCMTQ LFFFLFFVIS ECYILTSMAY
DRYVAICNPL LYKVTMSHQV CSMLTFAAYI MGLAGATAHT GCMLRLTFCS ANIINHYLCD
ILPLLQLSCT STYVNEVVVL IVVGINIMVP SCTILISYVF IVTSILHIKS TQGRSKAFST
CSSHVIALSL FFGSAAFMYI KYSSGSMEQG KVSSVFYTNV VPMLNPLIYS LRNKDVKVAL
RKALIKIQRR NIF*

speed

1.33 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