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: ENST00000383696
MT speed 0 s - this script 3.32556 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
OR5H6	polymorphism_automatic	5.08204589522165e-12	simple_aae		affected		D285N	single base exchange	rs9871143		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999994918 (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)

chr3:97983981G>AN/A show variant in all transcripts IGV

HGNC symbol

OR5H6

Ensembl transcript ID

ENST00000383696

Genbank transcript ID

NM_001005479

UniProt peptide

Q8NGV6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.853G>A
cDNA.894G>A
g.894G>A

AA changes

D285N Score: 23 explain score(s)

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

285

frameshift

known variant

Reference ID: rs9871143

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	13313	6141	19454

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.448	0.001
	0.353	0.001
(flanking)	-0.103	0

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 increased	890	wt: 0.53 / mu: 0.95	wt: CAAGCAGATGACCAA mu: CAAGCAGATAACCAA	AGCA\|gatg
Donor increased	895	wt: 0.30 / mu: 0.53	wt: AGATGACCAAGATAT mu: AGATAACCAAGATAT	ATGA\|ccaa
Donor marginally increased	899	wt: 0.9767 / mu: 0.9791 (marginal change - not scored)	wt: GACCAAGATATGATG mu: AACCAAGATATGATG	CCAA\|gata
Donor marginally increased	894	wt: 0.7487 / mu: 0.8215 (marginal change - not scored)	wt: CAGATGACCAAGATA mu: CAGATAACCAAGATA	GATG\|acca

distance from splice site

220

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

285

mutated

all conserved

285

Ptroglodytes

all identical

ENSPTRG00000040605

285

Mmulatta

all identical

ENSMMUG00000006555

269

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
275	287	TOPO_DOM	Extracellular (Potential).	lost
288	308	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
309	325	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

978 / 978

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

326 / 326

position of stopcodon in wt / mu cDNA

1019 / 1019

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

42 / 42

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

978

coding sequence (CDS) position

853

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

894

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

894

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

97983981

original gDNA sequence snippet

CTGCATCTCCGCAAGCAGATGACCAAGATATGATGGAGTCT

altered gDNA sequence snippet

CTGCATCTCCGCAAGCAGATAACCAAGATATGATGGAGTCT

original cDNA sequence snippet

CTGCATCTCCGCAAGCAGATGACCAAGATATGATGGAGTCT

altered cDNA sequence snippet

CTGCATCTCCGCAAGCAGATAACCAAGATATGATGGAGTCT

wildtype AA sequence

MFLYLCFIFQ RTCSEEMEEE NATLLTEFVL TGFLHQPDCK IPLFLAFLVI YLITIMGNLG
LIVLIWKDPH LHIPMYLFLG SLAFVDASLS STVTPKMLIN FLAKSKMISL SECMVQFFSL
VTTVTTECFL LATMAYDRYV AICKALLYPV IMTNELCIQL LVLSFIGGLL HALIHEAFSF
RLTFCNSNII QHFYCDIIPL LKISCTDSSI NFLMVFIFAG SVQVFTIGTI LISYTIILFT
ILEKKSIKGI RKAVSTCGAH LLSVSLYYGP LTFKYLGSAS PQADDQDMME SLFYTVIVPL
LNPMIYSLRN KQVIASFTKM FKSNV*

mutated AA sequence

speed

1.31 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