MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000334266
MT speed 1.28 s - this script 3.377613 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
TAS2R42	polymorphism_automatic	3.99102972892251e-12	simple_aae		affected		Y265C	single base exchange	rs1451772		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996009 (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)

chr12:11338750T>CN/A show variant in all transcripts IGV

HGNC symbol

TAS2R42

Ensembl transcript ID

ENST00000334266

Genbank transcript ID

NM_181429

UniProt peptide

Q7RTR8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.794A>G
cDNA.794A>G
g.794A>G

AA changes

Y265C Score: 194 explain score(s)

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

265

frameshift

known variant

Reference ID: rs1451772

database	homozygous (C/C)	heterozygous	allele carriers
1000G	122	858	980
ExAC	3481	21826	25307

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.941	0
	-0.054	0
(flanking)	-0.71	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	786	wt: 0.9812 / mu: 0.9894 (marginal change - not scored)	wt: TGGAACAACAAGTAC mu: TGGAACAACAAGTGC	GAAC\|aaca
Donor gained	788	0.69	mu: GAACAACAAGTGCAT	ACAA\|caag

distance from splice site

152

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

265

mutated

not conserved

265

Ptroglodytes

no homologue

Mmulatta

all identical

ENSMMUG00000008907

265

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000057699

256

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
260	265	TOPO_DOM	Extracellular (Potential).	lost
266	286	TRANSMEM	Helical; Name=7; (Potential).	might get lost (downstream of altered splice site)
287	314	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

945 / 945

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

315 / 315

position of stopcodon in wt / mu cDNA

945 / 945

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

-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

945

coding sequence (CDS) position

794

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

794

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

794

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

11338750

original gDNA sequence snippet

TATGTTGTGGAACAACAAGTACATAAAGTTTGTCATGTTAG

altered gDNA sequence snippet

TATGTTGTGGAACAACAAGTGCATAAAGTTTGTCATGTTAG

original cDNA sequence snippet

TATGTTGTGGAACAACAAGTACATAAAGTTTGTCATGTTAG

altered cDNA sequence snippet

TATGTTGTGGAACAACAAGTGCATAAAGTTTGTCATGTTAG

wildtype AA sequence

MATELDKIFL ILAIAEFIIS MLGNVFIGLV NCSEGIKNQK VFSADFILTC LAISTIGQLL
VILFDSFLVG LASHLYTTYR LGKTVIMLWH MTNHLTTWLA TCLSIFYFFK IAHFPHSLFL
WLRWRMNGMI VMLLILSLFL LIFDSLVLEI FIDISLNIID KSNLTLYLDE SKTLYDKLSI
LKTLLSLTSF IPFSLFLTSL LFLFLSLVRH TRNLKLSSLG SRDSSTEAHR RAMKMVMSFL
FLFIVHFFSL QVANGIFFML WNNKYIKFVM LALNAFPSCH SFILILGNSK LRQTAVRLLW
HLRNYTKTPN ALPL*

mutated AA sequence

MATELDKIFL ILAIAEFIIS MLGNVFIGLV NCSEGIKNQK VFSADFILTC LAISTIGQLL
VILFDSFLVG LASHLYTTYR LGKTVIMLWH MTNHLTTWLA TCLSIFYFFK IAHFPHSLFL
WLRWRMNGMI VMLLILSLFL LIFDSLVLEI FIDISLNIID KSNLTLYLDE SKTLYDKLSI
LKTLLSLTSF IPFSLFLTSL LFLFLSLVRH TRNLKLSSLG SRDSSTEAHR RAMKMVMSFL
FLFIVHFFSL QVANGIFFML WNNKCIKFVM LALNAFPSCH SFILILGNSK LRQTAVRLLW
HLRNYTKTPN ALPL*

speed

1.28 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