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: ENST00000242728
MT speed 0 s - this script 2.648486 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BHLHE41	disease_causing	0.999754497866085	simple_aae				P384R	single base exchange	rs121912617		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999754497866085 (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM095045)
protein features (might be) affected

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:26275297G>CN/A show variant in all transcripts IGV

HGNC symbol

BHLHE41

Ensembl transcript ID

ENST00000242728

Genbank transcript ID

NM_030762

UniProt peptide

Q9C0J9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1151C>G
cDNA.1499C>G
g.2764C>G

AA changes

P384R Score: 103 explain score(s)

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

384

frameshift

known variant

Reference ID: rs121912617
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM095045)

known disease mutation at this position, please check HGMD for details (HGMD ID CM095045)
known disease mutation at this position, please check HGMD for details (HGMD ID CM095045)

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
H2AZ, Histone, Histone 2A variant Z
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.039	0.989
	4.421	1
(flanking)	2.912	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

805

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

384

mutated

not conserved

384

Ptroglodytes

all identical

ENSPTRG00000004779

384

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000030256

326

Ggallus

no homologue

Trubripes

no homologue

Drerio

all identical

ENSDARG00000041691

336

AALTT

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000023482

350

AAAAT

protein features

start (aa)	end (aa)	feature	details
297	431	COMPBIAS	Ala/Gly-rich.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1449 / 1449

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

483 / 483

position of stopcodon in wt / mu cDNA

1797 / 1797

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

349 / 349

chromosome

strand

-1

last intron/exon boundary

695

theoretical NMD boundary in CDS

296

length of CDS

1449

coding sequence (CDS) position

1151

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

1499

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

2764

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

26275297

original gDNA sequence snippet

CCCGGCGGCGGCTGCCGCCCCGTTCCCGCTGCTATACCCCG

altered gDNA sequence snippet

CCCGGCGGCGGCTGCCGCCCGGTTCCCGCTGCTATACCCCG

original cDNA sequence snippet

CCCGGCGGCGGCTGCCGCCCCGTTCCCGCTGCTATACCCCG

altered cDNA sequence snippet

CCCGGCGGCGGCTGCCGCCCGGTTCCCGCTGCTATACCCCG

wildtype AA sequence

MDEGIPHLQE RQLLEHRDFI GLDYSSLYMC KPKRSMKRDD TKDTYKLPHR LIEKKRRDRI
NECIAQLKDL LPEHLKLTTL GHLEKAVVLE LTLKHLKALT ALTEQQHQKI IALQNGERSL
KSPIQSDLDA FHSGFQTCAK EVLQYLSRFE SWTPREPRCV QLINHLHAVA TQFLPTPQLL
TQQVPLSKGT GAPSAAGSAA APCLERAGQK LEPLAYCVPV IQRTQPSAEL AAENDTDTDS
GYGGEAEARP DREKGKGAGA SRVTIKQEPP GEDSPAPKRM KLDSRGGGSG GGPGGGAAAA
AAALLGPDPA AAAALLRPDA ALLSSLVAFG GGGGAPFPQP AAAAAPFCLP FCFLSPSAAA
AYVQPFLDKS GLEKYLYPAA AAAPFPLLYP GIPAPAAAAA AAAAAAAAAA AFPCLSSVLS
PPPEKAGAAA ATLLPHEVAP LGAPHPQHPH GRTHLPFAGP REPGNPESSA QEDPSQPGKE
AP*

mutated AA sequence

MDEGIPHLQE RQLLEHRDFI GLDYSSLYMC KPKRSMKRDD TKDTYKLPHR LIEKKRRDRI
NECIAQLKDL LPEHLKLTTL GHLEKAVVLE LTLKHLKALT ALTEQQHQKI IALQNGERSL
KSPIQSDLDA FHSGFQTCAK EVLQYLSRFE SWTPREPRCV QLINHLHAVA TQFLPTPQLL
TQQVPLSKGT GAPSAAGSAA APCLERAGQK LEPLAYCVPV IQRTQPSAEL AAENDTDTDS
GYGGEAEARP DREKGKGAGA SRVTIKQEPP GEDSPAPKRM KLDSRGGGSG GGPGGGAAAA
AAALLGPDPA AAAALLRPDA ALLSSLVAFG GGGGAPFPQP AAAAAPFCLP FCFLSPSAAA
AYVQPFLDKS GLEKYLYPAA AAARFPLLYP GIPAPAAAAA AAAAAAAAAA AFPCLSSVLS
PPPEKAGAAA ATLLPHEVAP LGAPHPQHPH GRTHLPFAGP REPGNPESSA QEDPSQPGKE
AP*

speed

0.64 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