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: ENST00000291582
MT speed 0 s - this script 2.882912 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
AIRE	disease_causing_automatic	0.999974333463774	simple_aae			0	G228W	single base exchange	rs121434257		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999974333463774 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM013689)
known disease mutation: rs3313 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr21:45709569G>TN/A show variant in all transcripts IGV

HGNC symbol

AIRE

Ensembl transcript ID

ENST00000291582

Genbank transcript ID

NM_000383

UniProt peptide

O43918

alteration type

single base exchange

alteration region

CDS

DNA changes

c.682G>T
cDNA.809G>T
g.3849G>T

AA changes

G228W Score: 184 explain score(s)

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

228

frameshift

known variant

Reference ID: rs121434257
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs3313 (pathogenic for Autoimmune polyglandular syndrome type 1, autosomal dominant) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013689)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013689)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013689)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.938	0.908
	3.234	0.992
(flanking)	3.234	0.992

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	3841	wt: 0.7224 / mu: 0.7453 (marginal change - not scored)	wt: CATCCAGGTTGGCGG mu: CATCCAGGTTGGCTG	TCCA\|ggtt

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

228

mutated

not conserved

228

Ptroglodytes

all identical

ENSPTRG00000013974

228

Mmulatta

all identical

ENSMMUG00000004168

228

Fcatus

no alignment

ENSFCAG00000007933

n/a

Mmusculus

all identical

ENSMUSG00000000731

229

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000004715

220

Drerio

all identical

ENSDARG00000056784

229

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
181	280	DOMAIN	SAND.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1638 / 1638

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

546 / 546

position of stopcodon in wt / mu cDNA

1765 / 1765

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

128 / 128

chromosome

strand

last intron/exon boundary

1694

theoretical NMD boundary in CDS

1516

length of CDS

1638

coding sequence (CDS) position

682

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

809

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

3849

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

45709569

original gDNA sequence snippet

AGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGC

altered gDNA sequence snippet

AGAAGTGCATCCAGGTTGGCTGGGAGTTCTACACTCCCAGC

original cDNA sequence snippet

AGAAGTGCATCCAGGTTGGCGGGGAGTTCTACACTCCCAGC

altered cDNA sequence snippet

AGAAGTGCATCCAGGTTGGCTGGGAGTTCTACACTCCCAGC

wildtype AA sequence

MATDAALRRL LRLHRTEIAV AVDSAFPLLH ALADHDVVPE DKFQETLHLK EKEGCPQAFH
ALLSWLLTQD STAILDFWRV LFKDYNLERY GRLQPILDSF PKDVDLSQPR KGRKPPAVPK
ALVPPPRLPT KRKASEEARA AAPAALTPRG TASPGSQLKA KPPKKPESSA EQQRLPLGNG
IQTMSASVQR AVAMSSGDVP GARGAVEGIL IQQVFESGGS KKCIQVGGEF YTPSKFEDSG
SGKNKARSSS GPKPLVRAKG AQGAAPGGGE ARLGQQGSVP APLALPSDPQ LHQKNEDECA
VCRDGGELIC CDGCPRAFHL ACLSPPLREI PSGTWRCSSC LQATVQEVQP RAEEPRPQEP
PVETPLPPGL RSAGEEVRGP PGEPLAGMDT TLVYKHLPAP PSAAPLPGLD SSALHPLLCV
GPEGQQNLAP GARCGVCGDG TDVLRCTHCA AAFHWRCHFP AGTSRPGTGL RCRSCSGDVT
PAPVEGVLAP SPARLAPGPA KDDTASHEPA LHRDDLESLL SEHTFDGILQ WAIQSMARPA
APFPS*

mutated AA sequence

MATDAALRRL LRLHRTEIAV AVDSAFPLLH ALADHDVVPE DKFQETLHLK EKEGCPQAFH
ALLSWLLTQD STAILDFWRV LFKDYNLERY GRLQPILDSF PKDVDLSQPR KGRKPPAVPK
ALVPPPRLPT KRKASEEARA AAPAALTPRG TASPGSQLKA KPPKKPESSA EQQRLPLGNG
IQTMSASVQR AVAMSSGDVP GARGAVEGIL IQQVFESGGS KKCIQVGWEF YTPSKFEDSG
SGKNKARSSS GPKPLVRAKG AQGAAPGGGE ARLGQQGSVP APLALPSDPQ LHQKNEDECA
VCRDGGELIC CDGCPRAFHL ACLSPPLREI PSGTWRCSSC LQATVQEVQP RAEEPRPQEP
PVETPLPPGL RSAGEEVRGP PGEPLAGMDT TLVYKHLPAP PSAAPLPGLD SSALHPLLCV
GPEGQQNLAP GARCGVCGDG TDVLRCTHCA AAFHWRCHFP AGTSRPGTGL RCRSCSGDVT
PAPVEGVLAP SPARLAPGPA KDDTASHEPA LHRDDLESLL SEHTFDGILQ WAIQSMARPA
APFPS*

speed

0.88 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

disease causing

Problems