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: ENST00000328188
MT speed 0 s - this script 2.776352 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
OR4C46	polymorphism_automatic	0.082946343083297	simple_aae		affected		S240F	single base exchange	rs11246607		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.917053656916703 (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)

chr11:51516000C>TN/A show variant in all transcripts IGV

HGNC symbol

OR4C46

Ensembl transcript ID

ENST00000328188

Genbank transcript ID

NM_001004703

UniProt peptide

A6NHA9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.719C>T
cDNA.719C>T
g.719C>T

AA changes

S240F Score: 155 explain score(s)

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

240

frameshift

known variant

Reference ID: rs11246607

database	homozygous (T/T)	heterozygous	allele carriers
1000G	554	1062	1616
ExAC	17056	-1345	15711

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.54	0.993
	2.038	0.996
(flanking)	-0.209	0.99

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	730	wt: 0.7244 / mu: 0.7495 (marginal change - not scored)	wt: CCTGTGTCTCCCACATCACGGTTGTCATCTTATTCTTTGTG mu: CCTGTGTCTTCCACATCACGGTTGTCATCTTATTCTTTGTG	acgg\|TTGT
Acc increased	721	wt: 0.64 / mu: 0.75	wt: CCCTCTCCACCTGTGTCTCCCACATCACGGTTGTCATCTTA mu: CCCTCTCCACCTGTGTCTTCCACATCACGGTTGTCATCTTA	tccc\|ACAT
Acc increased	727	wt: 0.39 / mu: 0.55	wt: CCACCTGTGTCTCCCACATCACGGTTGTCATCTTATTCTTT mu: CCACCTGTGTCTTCCACATCACGGTTGTCATCTTATTCTTT	atca\|CGGT
Acc marginally increased	712	wt: 0.9172 / mu: 0.9273 (marginal change - not scored)	wt: GGCACAAAGCCCTCTCCACCTGTGTCTCCCACATCACGGTT mu: GGCACAAAGCCCTCTCCACCTGTGTCTTCCACATCACGGTT	acct\|GTGT
Acc increased	722	wt: 0.79 / mu: 0.90	wt: CCTCTCCACCTGTGTCTCCCACATCACGGTTGTCATCTTAT mu: CCTCTCCACCTGTGTCTTCCACATCACGGTTGTCATCTTAT	ccca\|CATC
Acc marginally increased	723	wt: 0.8376 / mu: 0.9010 (marginal change - not scored)	wt: CTCTCCACCTGTGTCTCCCACATCACGGTTGTCATCTTATT mu: CTCTCCACCTGTGTCTTCCACATCACGGTTGTCATCTTATT	ccac\|ATCA
Acc increased	728	wt: 0.34 / mu: 0.48	wt: CACCTGTGTCTCCCACATCACGGTTGTCATCTTATTCTTTG mu: CACCTGTGTCTTCCACATCACGGTTGTCATCTTATTCTTTG	tcac\|GGTT
Acc marginally increased	725	wt: 0.9118 / mu: 0.9320 (marginal change - not scored)	wt: CTCCACCTGTGTCTCCCACATCACGGTTGTCATCTTATTCT mu: CTCCACCTGTGTCTTCCACATCACGGTTGTCATCTTATTCT	acat\|CACG
Donor increased	723	wt: 0.38 / mu: 0.48	wt: TCCCACATCACGGTT mu: TTCCACATCACGGTT	CCAC\|atca

distance from splice site

212

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

240

mutated

not conserved

240

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000049057

240

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
237	257	TRANSMEM	Helical; Name=6; (Potential).	lost
258	266	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
267	287	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
288	309	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

930 / 930

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

310 / 310

position of stopcodon in wt / mu cDNA

930 / 930

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

930

coding sequence (CDS) position

719

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

719

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

719

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

51516000

original gDNA sequence snippet

AGCCCTCTCCACCTGTGTCTCCCACATCACGGTTGTCATCT

altered gDNA sequence snippet

AGCCCTCTCCACCTGTGTCTTCCACATCACGGTTGTCATCT

original cDNA sequence snippet

AGCCCTCTCCACCTGTGTCTCCCACATCACGGTTGTCATCT

altered cDNA sequence snippet

AGCCCTCTCCACCTGTGTCTTCCACATCACGGTTGTCATCT

wildtype AA sequence

MENRNNMTEF VLLGLTENPK MQKIIFVVFF VIYIITVVGY VLIVVTITAS PSLGSPMYLS
LAYLSFIDAC YSSVNTPNLI THSLYGKKAI LFNGCMTQVF GEHFFGGAEG ILLTVMAYDH
YVAICKPLHY MTIMNQCVCA LLMGVVWMGG FLHATIQILF IFQLPFCGPN VIDHFMCDLN
PLLNLACTDT HMLELFIAAN SGFICLLNFA LLLVSYVVIL CSLRTHSLEA RHKALSTCVS
HITVVILFFV PCIFVYMRPA ATLPIDKAVA IFYTMITPML NPLIYTLKNA QMKNAIRKLC
SRKDISGDK*

mutated AA sequence

MENRNNMTEF VLLGLTENPK MQKIIFVVFF VIYIITVVGY VLIVVTITAS PSLGSPMYLS
LAYLSFIDAC YSSVNTPNLI THSLYGKKAI LFNGCMTQVF GEHFFGGAEG ILLTVMAYDH
YVAICKPLHY MTIMNQCVCA LLMGVVWMGG FLHATIQILF IFQLPFCGPN VIDHFMCDLN
PLLNLACTDT HMLELFIAAN SGFICLLNFA LLLVSYVVIL CSLRTHSLEA RHKALSTCVF
HITVVILFFV PCIFVYMRPA ATLPIDKAVA IFYTMITPML NPLIYTLKNA QMKNAIRKLC
SRKDISGDK*

speed

0.77 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