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: ENST00000263734
MT speed 0 s - this script 2.129897 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
EPAS1	disease_causing_automatic	0.99999968803541	simple_aae			0	M535V	single base exchange	rs137853037		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.99999968803541 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM081582)
known disease mutation: rs6470 (pathogenic)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:46607414A>GN/A show variant in all transcripts IGV

HGNC symbol

EPAS1

Ensembl transcript ID

ENST00000263734

Genbank transcript ID

NM_001430

UniProt peptide

Q99814

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1603A>G
cDNA.2113A>G
g.86609A>G

AA changes

M535V Score: 21 explain score(s)

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

535

frameshift

known variant

Reference ID: rs137853037
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs6470 (pathogenic for Erythrocytosis, familial, 4) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM081582)

known disease mutation at this position, please check HGMD for details (HGMD ID CM081582)
known disease mutation at this position, please check HGMD for details (HGMD ID CM081582)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.048	0.986
	4.853	1
(flanking)	4.853	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 marginally increased	86610	wt: 0.2951 / mu: 0.2958 (marginal change - not scored)	wt: ACTGGCACCCTATATCCCCATGGACGGGGAAGACTTCCAGC mu: ACTGGCACCCTATATCCCCGTGGACGGGGAAGACTTCCAGC	ccat\|GGAC
Acc marginally increased	86604	wt: 0.4034 / mu: 0.4294 (marginal change - not scored)	wt: GGAGACACTGGCACCCTATATCCCCATGGACGGGGAAGACT mu: GGAGACACTGGCACCCTATATCCCCGTGGACGGGGAAGACT	atat\|CCCC

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

535

mutated

all conserved

535

Ptroglodytes

all identical

ENSPTRG00000011891

535

Mmulatta

all identical

ENSMMUG00000023326

526

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000024140

534

Ggallus

all identical

ENSGALG00000010005

526

Trubripes

all identical

ENSTRUG00000005627

545

Drerio

all identical

ENSDARG00000057671

528

Dmelanogaster

no alignment

FBgn0015542

n/a

Celegans

no alignment

F38A6.3

n/a

Xtropicalis

all identical

ENSXETG00000026167

529

protein features

start (aa)	end (aa)	feature	details
496	542	REGION	NTAD.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2613 / 2613

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

871 / 871

position of stopcodon in wt / mu cDNA

3123 / 3123

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

511 / 511

chromosome

strand

last intron/exon boundary

2972

theoretical NMD boundary in CDS

2411

length of CDS

2613

coding sequence (CDS) position

1603

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

2113

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

86609

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

46607414

original gDNA sequence snippet

CACTGGCACCCTATATCCCCATGGACGGGGAAGACTTCCAG

altered gDNA sequence snippet

CACTGGCACCCTATATCCCCGTGGACGGGGAAGACTTCCAG

original cDNA sequence snippet

CACTGGCACCCTATATCCCCATGGACGGGGAAGACTTCCAG

altered cDNA sequence snippet

CACTGGCACCCTATATCCCCGTGGACGGGGAAGACTTCCAG

wildtype AA sequence

MTADKEKKRS SSERRKEKSR DAARCRRSKE TEVFYELAHE LPLPHSVSSH LDKASIMRLA
ISFLRTHKLL SSVCSENESE AEADQQMDNL YLKALEGFIA VVTQDGDMIF LSENISKFMG
LTQVELTGHS IFDFTHPCDH EEIRENLSLK NGSGFGKKSK DMSTERDFFM RMKCTVTNRG
RTVNLKSATW KVLHCTGQVK VYNNCPPHNS LCGYKEPLLS CLIIMCEPIQ HPSHMDIPLD
SKTFLSRHSM DMKFTYCDDR ITELIGYHPE ELLGRSAYEF YHALDSENMT KSHQNLCTKG
QVVSGQYRML AKHGGYVWLE TQGTVIYNPR NLQPQCIMCV NYVLSEIEKN DVVFSMDQTE
SLFKPHLMAM NSIFDSSGKG AVSEKSNFLF TKLKEEPEEL AQLAPTPGDA IISLDFGNQN
FEESSAYGKA ILPPSQPWAT ELRSHSTQSE AGSLPAFTVP QAAAPGSTTP SATSSSSSCS
TPNSPEDYYT SLDNDLKIEV IEKLFAMDTE AKDQCSTQTD FNELDLETLA PYIPMDGEDF
QLSPICPEER LLAENPQSTP QHCFSAMTNI FQPLAPVAPH SPFLLDKFQQ QLESKKTEPE
HRPMSSIFFD AGSKASLPPC CGQASTPLSS MGGRSNTQWP PDPPLHFGPT KWAVGDQRTE
FLGAAPLGPP VSPPHVSTFK TRSAKGFGAR GPDVLSPAMV ALSNKLKLKR QLEYEEQAFQ
DLSGGDPPGG STSHLMWKRM KNLRGGSCPL MPDKPLSANV PNDKFTQNPM RGLGHPLRHL
PLPQPPSAIS PGENSKSRFP PQCYATQYQD YSLSSAHKVS GMASRLLGPS FESYLLPELT
RYDCEVNVPV LGSSTLLQGG DLLRALDQAT *

mutated AA sequence

MTADKEKKRS SSERRKEKSR DAARCRRSKE TEVFYELAHE LPLPHSVSSH LDKASIMRLA
ISFLRTHKLL SSVCSENESE AEADQQMDNL YLKALEGFIA VVTQDGDMIF LSENISKFMG
LTQVELTGHS IFDFTHPCDH EEIRENLSLK NGSGFGKKSK DMSTERDFFM RMKCTVTNRG
RTVNLKSATW KVLHCTGQVK VYNNCPPHNS LCGYKEPLLS CLIIMCEPIQ HPSHMDIPLD
SKTFLSRHSM DMKFTYCDDR ITELIGYHPE ELLGRSAYEF YHALDSENMT KSHQNLCTKG
QVVSGQYRML AKHGGYVWLE TQGTVIYNPR NLQPQCIMCV NYVLSEIEKN DVVFSMDQTE
SLFKPHLMAM NSIFDSSGKG AVSEKSNFLF TKLKEEPEEL AQLAPTPGDA IISLDFGNQN
FEESSAYGKA ILPPSQPWAT ELRSHSTQSE AGSLPAFTVP QAAAPGSTTP SATSSSSSCS
TPNSPEDYYT SLDNDLKIEV IEKLFAMDTE AKDQCSTQTD FNELDLETLA PYIPVDGEDF
QLSPICPEER LLAENPQSTP QHCFSAMTNI FQPLAPVAPH SPFLLDKFQQ QLESKKTEPE
HRPMSSIFFD AGSKASLPPC CGQASTPLSS MGGRSNTQWP PDPPLHFGPT KWAVGDQRTE
FLGAAPLGPP VSPPHVSTFK TRSAKGFGAR GPDVLSPAMV ALSNKLKLKR QLEYEEQAFQ
DLSGGDPPGG STSHLMWKRM KNLRGGSCPL MPDKPLSANV PNDKFTQNPM RGLGHPLRHL
PLPQPPSAIS PGENSKSRFP PQCYATQYQD YSLSSAHKVS GMASRLLGPS FESYLLPELT
RYDCEVNVPV LGSSTLLQGG DLLRALDQAT *

speed

0.13 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