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: ENST00000357366
MT speed 0 s - this script 2.579713 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
OR11G2	polymorphism_automatic	0.532297072276163	simple_aae				I99N	single base exchange	rs4981822		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.467702927723837 (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)

chr14:20665790T>AN/A show variant in all transcripts IGV

HGNC symbol

OR11G2

Ensembl transcript ID

ENST00000357366

Genbank transcript ID

NM_001005503

UniProt peptide

Q8NGC1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.296T>A
cDNA.296T>A
g.296T>A

AA changes

I99N Score: 194 explain score(s)

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

frameshift

known variant

Reference ID: rs4981822

database	homozygous (A/A)	heterozygous	allele carriers
1000G	510	1197	1707
ExAC	15019	2729	17748

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.078	0.998
	4.498	1
(flanking)	0.429	0.992

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

296

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000015896

Fcatus

no homologue

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
93	113	TRANSMEM	Helical; Name=2; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1038 / 1038

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

346 / 346

position of stopcodon in wt / mu cDNA

1038 / 1038

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

1038

coding sequence (CDS) position

296

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

296

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

296

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

20665790

original gDNA sequence snippet

ACTCCACGCCCCCATGTACATCCTGCTCGCCAACTTCTCCT

altered gDNA sequence snippet

ACTCCACGCCCCCATGTACAACCTGCTCGCCAACTTCTCCT

original cDNA sequence snippet

ACTCCACGCCCCCATGTACATCCTGCTCGCCAACTTCTCCT

altered cDNA sequence snippet

ACTCCACGCCCCCATGTACAACCTGCTCGCCAACTTCTCCT

wildtype AA sequence

MHFLSQNDLN INLIPHLCLH RHSVIAGAFT IHRHMKIFNS PSNSSTFTGF ILLGFPCPRE
GQILLFVLFT VVYLLTLMGN GSIICAVHWD QRLHAPMYIL LANFSFLEIC YVTSTVPSML
ANFLSDTKII SFSGCFLQFY FFFSLGSTEC FFLAVMAFDR YLAICRPLRY PTIMTRRLCT
NLVVNCWVLG FIWFLIPIVN ISQMSFCGSR IIDHFLCDPA PLLTLTCKKG PVIELVFSVL
SPLPVFMLFL FIVGSYALVV RAVLRVPSAA GRRKAFSTCG SHLAVVSLFY GSVLVMYGSP
PSKNEAGKQK TVTLFYSVVT PLLNPVIYSL RNKDMRKALK KFWGT*

mutated AA sequence

MHFLSQNDLN INLIPHLCLH RHSVIAGAFT IHRHMKIFNS PSNSSTFTGF ILLGFPCPRE
GQILLFVLFT VVYLLTLMGN GSIICAVHWD QRLHAPMYNL LANFSFLEIC YVTSTVPSML
ANFLSDTKII SFSGCFLQFY FFFSLGSTEC FFLAVMAFDR YLAICRPLRY PTIMTRRLCT
NLVVNCWVLG FIWFLIPIVN ISQMSFCGSR IIDHFLCDPA PLLTLTCKKG PVIELVFSVL
SPLPVFMLFL FIVGSYALVV RAVLRVPSAA GRRKAFSTCG SHLAVVSLFY GSVLVMYGSP
PSKNEAGKQK TVTLFYSVVT PLLNPVIYSL RNKDMRKALK KFWGT*

speed

0.58 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