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: ENST00000240691
MT speed 0 s - this script 3.145005 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TAS2R9	polymorphism_automatic	1.0991207943789e-14	simple_aae				V187A	single base exchange	rs3741845		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999989 (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 CM087521)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:10962115A>GN/A show variant in all transcripts IGV

HGNC symbol

TAS2R9

Ensembl transcript ID

ENST00000240691

Genbank transcript ID

NM_023917

UniProt peptide

Q9NYW1

alteration type

single base exchange

alteration region

CDS

DNA changes

c.560T>C
cDNA.653T>C
g.653T>C

AA changes

V187A Score: 64 explain score(s)

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

187

frameshift

known variant

Reference ID: rs3741845

database	homozygous (G/G)	heterozygous	allele carriers
1000G	819	1021	1840
ExAC	22393	-12019	10374

known disease mutation at this position, please check HGMD for details (HGMD ID CM087521)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.834	0
	-1.094	0
(flanking)	1.193	0.001

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	651	wt: 0.3549 / mu: 0.3814 (marginal change - not scored)	wt: CTGGGGGTGATGGTT mu: CTGGGGGCGATGGTT	GGGG\|gtga

distance from splice site

423

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

187

mutated

not conserved

187

Ptroglodytes

not conserved

ENSPTRG00000004684

187

Mmulatta

not conserved

ENSMMUG00000001491

186

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
181	203	TRANSMEM	Helical; Name=5; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

939 / 939

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

313 / 313

position of stopcodon in wt / mu cDNA

1032 / 1032

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

94 / 94

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

939

coding sequence (CDS) position

560

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

653

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

653

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

10962115

original gDNA sequence snippet

GTTAACCCTGAACCTGGGGGTGATGGTTCCCTTTATCCTTT

altered gDNA sequence snippet

GTTAACCCTGAACCTGGGGGCGATGGTTCCCTTTATCCTTT

original cDNA sequence snippet

GTTAACCCTGAACCTGGGGGTGATGGTTCCCTTTATCCTTT

altered cDNA sequence snippet

GTTAACCCTGAACCTGGGGGCGATGGTTCCCTTTATCCTTT

wildtype AA sequence

MPSAIEAIYI ILIAGELTIG IWGNGFIVLV NCIDWLKRRD ISLIDIILIS LAISRICLLC
VISLDGFFML LFPGTYGNSV LVSIVNVVWT FANNSSLWFT SCLSIFYLLK IANISHPFFF
WLKLKINKVM LAILLGSFLI SLIISVPKND DMWYHLFKVS HEENITWKFK VSKIPGTFKQ
LTLNLGVMVP FILCLISFFL LLFSLVRHTK QIRLHATGFR DPSTEAHMRA IKAVIIFLLL
LIVYYPVFLV MTSSALIPQG KLVLMIGDIV TVIFPSSHSF ILIMGNSKLR EAFLKMLRFV
KCFLRRRKPF VP*

mutated AA sequence

MPSAIEAIYI ILIAGELTIG IWGNGFIVLV NCIDWLKRRD ISLIDIILIS LAISRICLLC
VISLDGFFML LFPGTYGNSV LVSIVNVVWT FANNSSLWFT SCLSIFYLLK IANISHPFFF
WLKLKINKVM LAILLGSFLI SLIISVPKND DMWYHLFKVS HEENITWKFK VSKIPGTFKQ
LTLNLGAMVP FILCLISFFL LLFSLVRHTK QIRLHATGFR DPSTEAHMRA IKAVIIFLLL
LIVYYPVFLV MTSSALIPQG KLVLMIGDIV TVIFPSSHSF ILIMGNSKLR EAFLKMLRFV
KCFLRRRKPF VP*

speed

0.80 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