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: ENST00000352511
MT speed 0 s - this script 3.34296 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ACVR2B	disease_causing_automatic	0.996569834152085	simple_aae		affected	0	V494I	single base exchange	rs121434438		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.996569834152085 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM990114)
known disease mutation: rs6859 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:38524764G>AN/A show variant in all transcripts IGV

HGNC symbol

ACVR2B

Ensembl transcript ID

ENST00000352511

Genbank transcript ID

NM_001106

UniProt peptide

Q13705

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1480G>A
cDNA.1952G>A
g.29423G>A

AA changes

V494I Score: 29 explain score(s)

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

494

frameshift

known variant

Reference ID: rs121434438

database	homozygous (A/A)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	3	3

known disease mutation: rs6859 (pathogenic for Heterotaxy, visceral, 4, autosomal) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM990114)

known disease mutation at this position, please check HGMD for details (HGMD ID CM990114)
known disease mutation at this position, please check HGMD for details (HGMD ID CM990114)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-1.081	0.364
	2.619	0.992
(flanking)	4.595	1

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 increased	29429	wt: 0.42 / mu: 0.47	wt: CCTCGGACTGTCTCGTTTCCCTGGTGACCTCTGTCACCAAT mu: CCTCGGACTGTCTCATTTCCCTGGTGACCTCTGTCACCAAT	tccc\|TGGT
Acc marginally increased	29431	wt: 0.9730 / mu: 0.9741 (marginal change - not scored)	wt: TCGGACTGTCTCGTTTCCCTGGTGACCTCTGTCACCAATGT mu: TCGGACTGTCTCATTTCCCTGGTGACCTCTGTCACCAATGT	cctg\|GTGA
Acc marginally increased	29424	wt: 0.2708 / mu: 0.2780 (marginal change - not scored)	wt: CACTACCTCGGACTGTCTCGTTTCCCTGGTGACCTCTGTCA mu: CACTACCTCGGACTGTCTCATTTCCCTGGTGACCTCTGTCA	tcgt\|TTCC
Acc increased	29426	wt: 0.37 / mu: 0.62	wt: CTACCTCGGACTGTCTCGTTTCCCTGGTGACCTCTGTCACC mu: CTACCTCGGACTGTCTCATTTCCCTGGTGACCTCTGTCACC	gttt\|CCCT

distance from splice site

136

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

494

mutated

all conserved

494

Ptroglodytes

all identical

ENSPTRG00000014760

494

Mmulatta

all identical

ENSMMUG00000018790

477

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000061393

518

Ggallus

all identical

ENSGALG00000006158

497

Trubripes

all conserved

ENSTRUG00000004161

494

Drerio

not conserved

ENSDARG00000044422

476

Dmelanogaster

not conserved

FBgn0003169

503

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000020999

482

protein features

start (aa)	end (aa)	feature	details
159	512	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1539 / 1539

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

513 / 513

position of stopcodon in wt / mu cDNA

2011 / 2011

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

473 / 473

chromosome

strand

last intron/exon boundary

1817

theoretical NMD boundary in CDS

1294

length of CDS

1539

coding sequence (CDS) position

1480

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

1952

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

29423

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

38524764

original gDNA sequence snippet

GCACTACCTCGGACTGTCTCGTTTCCCTGGTGACCTCTGTC

altered gDNA sequence snippet

GCACTACCTCGGACTGTCTCATTTCCCTGGTGACCTCTGTC

original cDNA sequence snippet

GCACTACCTCGGACTGTCTCGTTTCCCTGGTGACCTCTGTC

altered cDNA sequence snippet

GCACTACCTCGGACTGTCTCATTTCCCTGGTGACCTCTGTC

wildtype AA sequence

MTAPWVALAL LWGSLCAGSG RGEAETRECI YYNANWELER TNQSGLERCE GEQDKRLHCY
ASWRNSSGTI ELVKKGCWLD DFNCYDRQEC VATEENPQVY FCCCEGNFCN ERFTHLPEAG
GPEVTYEPPP TAPTLLTVLA YSLLPIGGLS LIVLLAFWMY RHRKPPYGHV DIHEDPGPPP
PSPLVGLKPL QLLEIKARGR FGCVWKAQLM NDFVAVKIFP LQDKQSWQSE REIFSTPGMK
HENLLQFIAA EKRGSNLEVE LWLITAFHDK GSLTDYLKGN IITWNELCHV AETMSRGLSY
LHEDVPWCRG EGHKPSIAHR DFKSKNVLLK SDLTAVLADF GLAVRFEPGK PPGDTHGQVG
TRRYMAPEVL EGAINFQRDA FLRIDMYAMG LVLWELVSRC KAADGPVDEY MLPFEEEIGQ
HPSLEELQEV VVHKKMRPTI KDHWLKHPGL AQLCVTIEEC WDHDAEARLS AGCVEERVSL
IRRSVNGTTS DCLVSLVTSV TNVDLPPKES SI*

mutated AA sequence

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

disease causing

Problems