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: ENST00000370489
MT speed 0 s - this script 2.763802 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ENTPD7	polymorphism_automatic	0.000428618633788957	simple_aae				V276A	single base exchange	rs11190245		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999571381366211 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:101451259T>CN/A show variant in all transcripts IGV

HGNC symbol

ENTPD7

Ensembl transcript ID

ENST00000370489

Genbank transcript ID

NM_020354

UniProt peptide

Q9NQZ7

alteration type

single base exchange

alteration region

CDS

DNA changes

c.827T>C
cDNA.1005T>C
g.31997T>C

AA changes

V276A Score: 64 explain score(s)

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

276

frameshift

known variant

Reference ID: rs11190245

database	homozygous (C/C)	heterozygous	allele carriers
1000G	143	869	1012
ExAC	4290	22441	26731

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.864	0.996
	0.124	0.994
(flanking)	1.241	0.999

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	32004	wt: 0.7571 / mu: 0.7678 (marginal change - not scored)	wt: ACCTCAACCTCTGTCCTTCCTGCAAAGCAGGTACTTTACCT mu: ACCTCAACCTCTGCCCTTCCTGCAAAGCAGGTACTTTACCT	tcct\|GCAA
Acc marginally increased	31999	wt: 0.4491 / mu: 0.4746 (marginal change - not scored)	wt: TTCCTACCTCAACCTCTGTCCTTCCTGCAAAGCAGGTACTT mu: TTCCTACCTCAACCTCTGCCCTTCCTGCAAAGCAGGTACTT	gtcc\|TTCC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

276

mutated

not conserved

276

Ptroglodytes

all identical

ENSPTRG00000002832

276

Mmulatta

all identical

ENSMMUG00000023761

276

Fcatus

no homologue

Mmusculus

not conserved

ENSMUSG00000025192

276

Ggallus

not conserved

ENSGALG00000023691

276

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

not conserved

C33H5.14

199

Xtropicalis

not conserved

ENSXETG00000003746

277

protein features

start (aa)	end (aa)	feature	details
50	546	TOPO_DOM	Vesicular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1815 / 1815

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

605 / 605

position of stopcodon in wt / mu cDNA

1993 / 1993

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

179 / 179

chromosome

strand

last intron/exon boundary

1762

theoretical NMD boundary in CDS

1533

length of CDS

1815

coding sequence (CDS) position

827

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

1005

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

31997

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

101451259

original gDNA sequence snippet

AGTTCCTACCTCAACCTCTGTCCTTCCTGCAAAGCAGGTAC

altered gDNA sequence snippet

AGTTCCTACCTCAACCTCTGCCCTTCCTGCAAAGCAGGTAC

original cDNA sequence snippet

AGTTCCTACCTCAACCTCTGTCCTTCCTGCAAAGCAGGAAG

altered cDNA sequence snippet

AGTTCCTACCTCAACCTCTGCCCTTCCTGCAAAGCAGGAAG

wildtype AA sequence

MARISFSYLC PASWYFTVPT VSPFLRQRVA FLGLFFISCL LLLMLIIDFR HWSASLPRDR
QYERYLARVG ELEATDTEDP NLNYGLVVDC GSSGSRIFVY FWPRHNGNPH DLLDIKQMRD
RNSQPVVKKI KPGISAMADT PEHASDYLRP LLSFAAAHVP VKKHKETPLY ILCTAGMRLL
PERKQLAILA DLVKDLPLEF DFLFSQSQAE VISGKQEGVY AWIGINFVLG RFDHEDESDA
EATQELAAGR RRTVGILDMG GASLQIAYEV PTSTSVLPAK QEEAAKILLA EFNLGCDVQH
TEHVYRVYVT TFLGFGGNFA RQRYEDLVLN ETLNKNRLLG QKTGLSPDNP FLDPCLPVGL
TDVVERNSQV LHVRGRGDWV SCGAMLSPLL ARSNTSQASL NGIYQSPIDF NNSEFYGFSE
FFYCTEDVLR IGGRYHGPTF AKAAQDYCGM AWSVLTQRFK NGLFSSHADE HRLKYQCFKS
AWMYQVLHEG FHFPYDYPNL RTAQLVYDRE VQWTLGAILY KTRFLPLRDL RQEGVRQAHG
SWFRLSFVYN HYLFFACILV VLLAIFLYLL RLRRIHHRQT RASAPLDLLW LEEVVPMMGV
QVGP*

mutated AA sequence

MARISFSYLC PASWYFTVPT VSPFLRQRVA FLGLFFISCL LLLMLIIDFR HWSASLPRDR
QYERYLARVG ELEATDTEDP NLNYGLVVDC GSSGSRIFVY FWPRHNGNPH DLLDIKQMRD
RNSQPVVKKI KPGISAMADT PEHASDYLRP LLSFAAAHVP VKKHKETPLY ILCTAGMRLL
PERKQLAILA DLVKDLPLEF DFLFSQSQAE VISGKQEGVY AWIGINFVLG RFDHEDESDA
EATQELAAGR RRTVGILDMG GASLQIAYEV PTSTSALPAK QEEAAKILLA EFNLGCDVQH
TEHVYRVYVT TFLGFGGNFA RQRYEDLVLN ETLNKNRLLG QKTGLSPDNP FLDPCLPVGL
TDVVERNSQV LHVRGRGDWV SCGAMLSPLL ARSNTSQASL NGIYQSPIDF NNSEFYGFSE
FFYCTEDVLR IGGRYHGPTF AKAAQDYCGM AWSVLTQRFK NGLFSSHADE HRLKYQCFKS
AWMYQVLHEG FHFPYDYPNL RTAQLVYDRE VQWTLGAILY KTRFLPLRDL RQEGVRQAHG
SWFRLSFVYN HYLFFACILV VLLAIFLYLL RLRRIHHRQT RASAPLDLLW LEEVVPMMGV
QVGP*

speed

0.75 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