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: ENST00000390675
MT speed 0.35 s - this script 2.436751 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TAS2R31	polymorphism_automatic	9.22295573246856e-12	simple_aae				R35W	single base exchange	rs10845295		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999990777 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM078499)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:11183832G>AN/A show variant in all transcripts IGV

HGNC symbol

TAS2R31

Ensembl transcript ID

ENST00000390675

Genbank transcript ID

NM_176885

UniProt peptide

P59538

alteration type

single base exchange

alteration region

CDS

DNA changes

c.103C>T
cDNA.175C>T
g.175C>T

AA changes

R35W Score: 101 explain score(s)

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

frameshift

known variant

Reference ID: rs10845295

database	homozygous (A/A)	heterozygous	allele carriers
1000G	315	1050	1365
ExAC	11760	9247	21007

known disease mutation at this position, please check HGMD for details (HGMD ID CM078499)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.52	0.072
	-0.009	0.02
(flanking)	-1.837	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 marginally increased	168	wt: 0.8997 / mu: 0.9407 (marginal change - not scored)	wt: AATTCCATTGAGCGG mu: AATTCCATTGAGTGG	TTCC\|attg

distance from splice site

175

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

no homologue

Fcatus

not conserved

ENSFCAG00000018426

Mmusculus

not conserved

ENSMUSG00000059382

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
24	55	TOPO_DOM	Cytoplasmic (Potential).	lost

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

1002 / 1002

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

73 / 73

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

930

coding sequence (CDS) position

103

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

175

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

175

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

11183832

original gDNA sequence snippet

CATTGGTAAATTCCATTGAGCGGGTCAAGAGACAAAAGATC

altered gDNA sequence snippet

CATTGGTAAATTCCATTGAGTGGGTCAAGAGACAAAAGATC

original cDNA sequence snippet

CATTGGTAAATTCCATTGAGCGGGTCAAGAGACAAAAGATC

altered cDNA sequence snippet

CATTGGTAAATTCCATTGAGTGGGTCAAGAGACAAAAGATC

wildtype AA sequence

MTTFIPIIFS SVVVVLFVIG NFANGFIALV NSIERVKRQK ISFADQILTA LAVSRVGLLW
VLLLNWYSTV FNPAFYSVEV RTTAYNVWAV TGHFSNWLAT SLSIFYLLKI ANFSNLIFLH
LKRRVKSVIL VMLLGPLLFL ACQLFVINMK EIVRTKEYEG NLTWKIKLRS AVYLSDATVT
TLGNLVPFTL TLLCFLLLIC SLCKHLKKMQ LHGKGSQDPS TKVHIKALQT VIFFLLLCAV
YFLSIMISVW SFGSLENKPV FMFCKAIRFS YPSIHPFILI WGNKKLKQTF LSVLRQVRYW
VKGEKPSSP*

mutated AA sequence

MTTFIPIIFS SVVVVLFVIG NFANGFIALV NSIEWVKRQK ISFADQILTA LAVSRVGLLW
VLLLNWYSTV FNPAFYSVEV RTTAYNVWAV TGHFSNWLAT SLSIFYLLKI ANFSNLIFLH
LKRRVKSVIL VMLLGPLLFL ACQLFVINMK EIVRTKEYEG NLTWKIKLRS AVYLSDATVT
TLGNLVPFTL TLLCFLLLIC SLCKHLKKMQ LHGKGSQDPS TKVHIKALQT VIFFLLLCAV
YFLSIMISVW SFGSLENKPV FMFCKAIRFS YPSIHPFILI WGNKKLKQTF LSVLRQVRYW
VKGEKPSSP*

speed

0.35 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