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: ENST00000354565
MT speed 0 s - this script 2.349676 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
OR5H1	polymorphism_automatic	1.03395070283341e-12	simple_aae		affected		I153L	single base exchange	rs9845327		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999998966 (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)

chr3:97851998A>CN/A show variant in all transcripts IGV

HGNC symbol

OR5H1

Ensembl transcript ID

ENST00000354565

Genbank transcript ID

NM_001005338

UniProt peptide

A6NKK0

alteration type

single base exchange

alteration region

CDS

DNA changes

c.457A>C
cDNA.457A>C
g.457A>C

AA changes

I153L Score: 5 explain score(s)

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

153

frameshift

known variant

Reference ID: rs9845327

database	homozygous (C/C)	heterozygous	allele carriers
1000G	-	-	-
ExAC	19170	-5573	13597

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-3.032	0
	-2.918	0
(flanking)	2.248	0.014

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 increased	465	wt: 0.71 / mu: 0.89	wt: TATGTAGGTGGTATTCTTCATGCTTTAATCCATGAAGGATT mu: TATGTAGGTGGTCTTCTTCATGCTTTAATCCATGAAGGATT	tcat\|GCTT
Acc increased	449	wt: 0.25 / mu: 0.44	wt: GCTATTAATCTTGTCATATGTAGGTGGTATTCTTCATGCTT mu: GCTATTAATCTTGTCATATGTAGGTGGTCTTCTTCATGCTT	atgt\|AGGT
Acc increased	467	wt: 0.49 / mu: 0.70	wt: TGTAGGTGGTATTCTTCATGCTTTAATCCATGAAGGATTTT mu: TGTAGGTGGTCTTCTTCATGCTTTAATCCATGAAGGATTTT	atgc\|TTTA
Acc gained	464	0.36	mu: ATATGTAGGTGGTCTTCTTCATGCTTTAATCCATGAAGGAT	ttca\|TGCT
Acc gained	463	0.33	mu: CATATGTAGGTGGTCTTCTTCATGCTTTAATCCATGAAGGA	cttc\|ATGC

distance from splice site

457

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

153

mutated

all conserved

153

Ptroglodytes

no homologue

Mmulatta

no homologue

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
144	164	TRANSMEM	Helical; Name=4; (Potential).	lost
165	195	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
179	179	DISULFID	By similarity.	might get lost (downstream of altered splice site)
196	216	TRANSMEM	Helical; Name=5; (Potential).	might get lost (downstream of altered splice site)
217	240	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
228	228	CONFLICT	K -> R (in Ref. 2; X64988).	might get lost (downstream of altered splice site)
241	261	TRANSMEM	Helical; Name=6; (Potential).	might get lost (downstream of altered splice site)
262	271	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
272	292	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
293	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

942 / 942

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

942

coding sequence (CDS) position

457

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

457

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

457

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

97851998

original gDNA sequence snippet

TCTTGTCATATGTAGGTGGTATTCTTCATGCTTTAATCCAT

altered gDNA sequence snippet

TCTTGTCATATGTAGGTGGTCTTCTTCATGCTTTAATCCAT

original cDNA sequence snippet

TCTTGTCATATGTAGGTGGTATTCTTCATGCTTTAATCCAT

altered cDNA sequence snippet

TCTTGTCATATGTAGGTGGTCTTCTTCATGCTTTAATCCAT

wildtype AA sequence

MEEENATLLT EFVLTGFLYQ PQWKIPLFLA FLVIYLITIM GNLGLIAVIW KDPHLHIPMY
LLLGNLAFVD AWISSTVTPK MLNNFLAKSK MISLSECKIQ FFSFAISVTT ECFLLATMAY
DRYVAICKPL LYPAIMTNGL CIRLLILSYV GGILHALIHE GFLFRLTFCN SNIVHHIYCD
TIPLSKISCT DSSINFLMVF IFSGSIQVFS IVTILVSYTF VLFAILKKKS DKGVRKAFST
CGAHLFSVSL YYGPLLFIYV GPASPQADDQ DMVEPLFYTV IIPLLNPIIY SLRNKQVTVS
FTKMLKKHVK VSY*

mutated AA sequence

MEEENATLLT EFVLTGFLYQ PQWKIPLFLA FLVIYLITIM GNLGLIAVIW KDPHLHIPMY
LLLGNLAFVD AWISSTVTPK MLNNFLAKSK MISLSECKIQ FFSFAISVTT ECFLLATMAY
DRYVAICKPL LYPAIMTNGL CIRLLILSYV GGLLHALIHE GFLFRLTFCN SNIVHHIYCD
TIPLSKISCT DSSINFLMVF IFSGSIQVFS IVTILVSYTF VLFAILKKKS DKGVRKAFST
CGAHLFSVSL YYGPLLFIYV GPASPQADDQ DMVEPLFYTV IIPLLNPIIY SLRNKQVTVS
FTKMLKKHVK VSY*

speed

0.29 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