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: ENST00000332826
MT speed 0.97 s - this script 3.109044 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ANO9	polymorphism_automatic	4.37679892328902e-11	simple_aae				A51V	single base exchange	rs12575508		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999956232 (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)

chr11:433867G>AN/A show variant in all transcripts IGV

HGNC symbol

ANO9

Ensembl transcript ID

ENST00000332826

Genbank transcript ID

NM_001012302

UniProt peptide

A1A5B4

alteration type

single base exchange

alteration region

CDS

DNA changes

c.152C>T
cDNA.237C>T
g.8145C>T

AA changes

A51V Score: 64 explain score(s)

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

frameshift

known variant

Reference ID: rs12575508

database	homozygous (A/A)	heterozygous	allele carriers
1000G	118	759	877
ExAC	725	5941	6666

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.35	0
	-1.066	0
(flanking)	-0.571	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	8138	wt: 0.9718 / mu: 0.9723 (marginal change - not scored)	wt: ACCCCCGGCAGGCGC mu: ACCCCCGGCAGGTGC	CCCC\|ggca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

not conserved

Ptroglodytes

no alignment

ENSPTRG00000041973

n/a

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000007583

n/a

Mmusculus

all identical

ENSMUSG00000054662

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000076320

Dmelanogaster

no alignment

FBgn0036235

n/a

Celegans

no alignment

F56A8.1

n/a

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	198	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2349 / 2349

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

783 / 783

position of stopcodon in wt / mu cDNA

2434 / 2434

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

86 / 86

chromosome

strand

-1

last intron/exon boundary

2216

theoretical NMD boundary in CDS

2080

length of CDS

2349

coding sequence (CDS) position

152

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

237

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

8145

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

433867

original gDNA sequence snippet

CCAGAGAGACCCCCGGCAGGCGCGGCAGCAACAGTTCCTGG

altered gDNA sequence snippet

CCAGAGAGACCCCCGGCAGGTGCGGCAGCAACAGTTCCTGG

original cDNA sequence snippet

CCAGAGAGACCCCCGGCAGGCGCGGCAGCAACAGTTCCTGG

altered cDNA sequence snippet

CCAGAGAGACCCCCGGCAGGTGCGGCAGCAACAGTTCCTGG

wildtype AA sequence

MQGEESLRIL VEPEGDSFPL MEISTCETEA SEQWDYVLVA QRHTQRDPRQ ARQQQFLEEL
RRKGFHIKVI RDQKQVFFGI RADNSVFGLY RTFLLEPEGP APHAELAAPT TIPVTTSLRI
RIVNFVVMNN KTSAGETFED LMKDGVFEAR FPLHKGEGRL KKTWARWRHM FREQPVDEIR
NYFGEKVALY FVWLGWYTYM LVPAALTGLL VFLSGFSLFE ASQISKEICE AHDILMCPLG
DHSRRYQRLS ETCTFAKLTH LFDNDGTVVF AIFMALWATV FLEIWKRQRA RVVLHWDLYV
WDEEQEEMAL QLINCPDYKL RPYQHSYLRS TVILVLTLLM ICLMIGMAHV LVVYRVLASA
LFSSSAVPFL EEQVTTAVVV TGALVHYVTI IIMTKINRCV ALKLCDFEMP RTFSERESRF
TIRFFTLQFF THFSSLIYIA FILGRINGHP GKSTRLAGLW KLEECHASGC MMDLFVQMAI
IMGLKQTLSN CVEYLVPWVT HKCRSLRASE SGHLPRDPEL RDWRRNYLLN PVNTFSLFDE
FMEMMIQYGF TTIFVAAFPL APLLALFSNL VEIRLDAIKM VWLQRRLVPR KAKDIGTWLQ
VLETIGVLAV IANGMVIAFT SEFIPRVVYK YRYSPCLKEG NSTVDCLKGY VNHSLSVFHT
KDFQDPDGIE GSENVTLCRY RDYRNPPDYN FSEQFWFLLA IRLAFVILFE HVALCIKLIA
AWFVPDIPQS VKNKVLEVKY QRLREKMWHG RQRLGGVGAG SRPPMPAHPT PASIFSARST
DV*

mutated AA sequence

MQGEESLRIL VEPEGDSFPL MEISTCETEA SEQWDYVLVA QRHTQRDPRQ VRQQQFLEEL
RRKGFHIKVI RDQKQVFFGI RADNSVFGLY RTFLLEPEGP APHAELAAPT TIPVTTSLRI
RIVNFVVMNN KTSAGETFED LMKDGVFEAR FPLHKGEGRL KKTWARWRHM FREQPVDEIR
NYFGEKVALY FVWLGWYTYM LVPAALTGLL VFLSGFSLFE ASQISKEICE AHDILMCPLG
DHSRRYQRLS ETCTFAKLTH LFDNDGTVVF AIFMALWATV FLEIWKRQRA RVVLHWDLYV
WDEEQEEMAL QLINCPDYKL RPYQHSYLRS TVILVLTLLM ICLMIGMAHV LVVYRVLASA
LFSSSAVPFL EEQVTTAVVV TGALVHYVTI IIMTKINRCV ALKLCDFEMP RTFSERESRF
TIRFFTLQFF THFSSLIYIA FILGRINGHP GKSTRLAGLW KLEECHASGC MMDLFVQMAI
IMGLKQTLSN CVEYLVPWVT HKCRSLRASE SGHLPRDPEL RDWRRNYLLN PVNTFSLFDE
FMEMMIQYGF TTIFVAAFPL APLLALFSNL VEIRLDAIKM VWLQRRLVPR KAKDIGTWLQ
VLETIGVLAV IANGMVIAFT SEFIPRVVYK YRYSPCLKEG NSTVDCLKGY VNHSLSVFHT
KDFQDPDGIE GSENVTLCRY RDYRNPPDYN FSEQFWFLLA IRLAFVILFE HVALCIKLIA
AWFVPDIPQS VKNKVLEVKY QRLREKMWHG RQRLGGVGAG SRPPMPAHPT PASIFSARST
DV*

speed

0.97 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