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: ENST00000369085
MT speed 1.05 s - this script 3.094329 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BAG3	disease_causing_automatic	0.999999999991609	simple_aae		affected	0	P209L	single base exchange	rs121918312		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999991609 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM090724)
known disease mutation: rs5981 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:121431885C>TN/A show variant in all transcripts IGV

HGNC symbol

BAG3

Ensembl transcript ID

ENST00000369085

Genbank transcript ID

NM_004281

UniProt peptide

O95817

alteration type

single base exchange

alteration region

CDS

DNA changes

c.626C>T
cDNA.932C>T
g.21004C>T

AA changes

P209L Score: 98 explain score(s)

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

209

frameshift

known variant

Reference ID: rs121918312
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs5981 (pathogenic for Myofibrillar myopathy, BAG3-related|Dilated cardiomyopathy 1HH|Charcot-Marie-Tooth disease|not provided) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM090724)

known disease mutation at this position, please check HGMD for details (HGMD ID CM090724)
known disease mutation at this position, please check HGMD for details (HGMD ID CM090724)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.437	1
	5.437	1
(flanking)	-2.668	0.068

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	21006	wt: 0.33 / mu: 0.44	wt: GGGGGTACATCTCCATTCCGGTGATACACGAGCAGAACGTT mu: GGGGGTACATCTCCATTCTGGTGATACACGAGCAGAACGTT	ccgg\|TGAT
Donor increased	21009	wt: 0.43 / mu: 0.50	wt: CGGTGATACACGAGC mu: TGGTGATACACGAGC	GTGA\|taca

distance from splice site

119

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

209

mutated

not conserved

209

Ptroglodytes

all identical

ENSPTRG00000002998

209

Mmulatta

all identical

ENSMMUG00000000798

209

Fcatus

all identical

ENSFCAG00000010661

150

Mmusculus

all identical

ENSMUSG00000030847

215

Ggallus

no alignment

ENSGALG00000009433

n/a

Trubripes

all identical

ENSTRUG00000017927

182

Drerio

all identical

ENSDARG00000039486

207

Dmelanogaster

not conserved

FBgn0086708

282

KSV

Celegans

no homologue

Xtropicalis

all identical

ENSXETG00000010233

211

protein features

start (aa)	end (aa)	feature	details
227	227	CONFLICT	Q -> K (in Ref. 1; AAD16122).	might get lost (downstream of altered splice site)
237	237	CONFLICT	Q -> R (in Ref. 1; AAD16122).	might get lost (downstream of altered splice site)
240	240	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
247	247	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
274	274	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
275	275	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
279	279	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
284	284	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
285	285	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
289	289	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
291	291	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
304	304	CONFLICT	Missing (in Ref. 5; CAB70824).	might get lost (downstream of altered splice site)
377	377	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
381	381	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
385	385	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
386	386	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
406	406	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)
421	498	DOMAIN	BAG.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1728 / 1728

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

576 / 576

position of stopcodon in wt / mu cDNA

2034 / 2034

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

307 / 307

chromosome

strand

last intron/exon boundary

1216

theoretical NMD boundary in CDS

859

length of CDS

1728

coding sequence (CDS) position

626

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

932

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

21004

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

121431885

original gDNA sequence snippet

GCGGGGGTACATCTCCATTCCGGTGATACACGAGCAGAACG

altered gDNA sequence snippet

GCGGGGGTACATCTCCATTCTGGTGATACACGAGCAGAACG

original cDNA sequence snippet

GCGGGGGTACATCTCCATTCCGGTGATACACGAGCAGAACG

altered cDNA sequence snippet

GCGGGGGTACATCTCCATTCTGGTGATACACGAGCAGAACG

wildtype AA sequence

MSAATHSPMM QVASGNGDRD PLPPGWEIKI DPQTGWPFFV DHNSRTTTWN DPRVPSEGPK
ETPSSANGPS REGSRLPPAR EGHPVYPQLR PGYIPIPVLH EGAENRQVHP FHVYPQPGMQ
RFRTEAAAAA PQRSQSPLRG MPETTQPDKQ CGQVAAAAAA QPPASHGPER SQSPAASDCS
SSSSSASLPS SGRSSLGSHQ LPRGYISIPV IHEQNVTRPA AQPSFHQAQK THYPAQQGEY
QTHQPVYHKI QGDDWEPRPL RAASPFRSSV QGASSREGSP ARSSTPLHSP SPIRVHTVVD
RPQQPMTHRE TAPVSQPENK PESKPGPVGP ELPPGHIPIQ VIRKEVDSKP VSQKPPPPSE
KVEVKVPPAP VPCPPPSPGP SAVPSSPKSV ATEERAAPST APAEATPPKP GEAEAPPKHP
GVLKVEAILE KVQGLEQAVD NFEGKKTDKK YLMIEEYLTK ELLALDSVDP EGRADVRQAR
RDGVRKVQTI LEKLEQKAID VPGQVQVYEL QPSNLEADQP LQAIMEMGAV AADKGKKNAG
NAEDPHTETQ QPEATAAATS NPSSMTDTPG NPAAP*

mutated AA sequence

MSAATHSPMM QVASGNGDRD PLPPGWEIKI DPQTGWPFFV DHNSRTTTWN DPRVPSEGPK
ETPSSANGPS REGSRLPPAR EGHPVYPQLR PGYIPIPVLH EGAENRQVHP FHVYPQPGMQ
RFRTEAAAAA PQRSQSPLRG MPETTQPDKQ CGQVAAAAAA QPPASHGPER SQSPAASDCS
SSSSSASLPS SGRSSLGSHQ LPRGYISILV IHEQNVTRPA AQPSFHQAQK THYPAQQGEY
QTHQPVYHKI QGDDWEPRPL RAASPFRSSV QGASSREGSP ARSSTPLHSP SPIRVHTVVD
RPQQPMTHRE TAPVSQPENK PESKPGPVGP ELPPGHIPIQ VIRKEVDSKP VSQKPPPPSE
KVEVKVPPAP VPCPPPSPGP SAVPSSPKSV ATEERAAPST APAEATPPKP GEAEAPPKHP
GVLKVEAILE KVQGLEQAVD NFEGKKTDKK YLMIEEYLTK ELLALDSVDP EGRADVRQAR
RDGVRKVQTI LEKLEQKAID VPGQVQVYEL QPSNLEADQP LQAIMEMGAV AADKGKKNAG
NAEDPHTETQ QPEATAAATS NPSSMTDTPG NPAAP*

speed

1.05 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