MutationTaster - study a chromosomal position

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input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000540732
Querying Taster for transcript #2: ENST00000269980
Querying Taster for transcript #3: ENST00000457836
MT speed 0 s - this script 3.506245 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
BCKDHA	disease_causing_automatic	0.999999999977598	simple_aae		affected	0	C264W	single base exchange	rs137852876		show file
BCKDHA	disease_causing_automatic	0.999999999983352	simple_aae		affected	0	C242W	single base exchange	rs137852876		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999977598 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM045934)
known disease mutation: rs2382 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:41928214C>GN/A show variant in all transcripts IGV

HGNC symbol

BCKDHA

Ensembl transcript ID

ENST00000269980

Genbank transcript ID

NM_000709

UniProt peptide

P12694

alteration type

single base exchange

alteration region

CDS

DNA changes

c.792C>G
cDNA.1160C>G
g.24850C>G

AA changes

C264W Score: 215 explain score(s)

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

264

frameshift

known variant

Reference ID: rs137852876
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs2382 (pathogenic for Maple syrup urine disease type 1A) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM045934)

known disease mutation at this position, please check HGMD for details (HGMD ID CM045934)
known disease mutation at this position, please check HGMD for details (HGMD ID CM045934)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.565	1
	0.979	1
(flanking)	3.773	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	24849	wt: 0.82 / mu: 0.96	wt: GTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCA mu: GTGCCCCATCATCTTCTTCTGGCGGAACAATGGCTACGCCA	tctg\|CCGG
Acc marginally increased	24844	wt: 0.5136 / mu: 0.5513 (marginal change - not scored)	wt: CTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTA mu: CTTGAGTGCCCCATCATCTTCTTCTGGCGGAACAATGGCTA	cttc\|TTCT
Acc increased	24842	wt: 0.48 / mu: 0.62	wt: CACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGC mu: CACTTGAGTGCCCCATCATCTTCTTCTGGCGGAACAATGGC	atct\|TCTT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

264

mutated

not conserved

264

Ptroglodytes

all identical

ENSPTRG00000011025

264

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000060376

265

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000009706

265

Drerio

all identical

ENSDARG00000040555

265

Dmelanogaster

all identical

FBgn0037709

257

Celegans

all identical

Y39E4A.3

249

Xtropicalis

all identical

ENSXETG00000018753

227

protein features

start (aa)	end (aa)	feature	details
260	266	STRAND		lost
268	270	STRAND		might get lost (downstream of altered splice site)
275	277	HELIX		might get lost (downstream of altered splice site)
280	282	STRAND		might get lost (downstream of altered splice site)
285	287	HELIX		might get lost (downstream of altered splice site)
289	291	HELIX		might get lost (downstream of altered splice site)
294	299	STRAND		might get lost (downstream of altered splice site)
303	320	HELIX		might get lost (downstream of altered splice site)
324	329	STRAND		might get lost (downstream of altered splice site)
337	337	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
342	344	HELIX		might get lost (downstream of altered splice site)
345	345	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
347	347	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
351	357	HELIX		might get lost (downstream of altered splice site)
360	368	HELIX		might get lost (downstream of altered splice site)
369	372	TURN		might get lost (downstream of altered splice site)
376	399	HELIX		might get lost (downstream of altered splice site)
405	408	HELIX		might get lost (downstream of altered splice site)
409	411	TURN		might get lost (downstream of altered splice site)
412	415	STRAND		might get lost (downstream of altered splice site)
418	434	HELIX		might get lost (downstream of altered splice site)
435	437	HELIX		might get lost (downstream of altered splice site)
440	442	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1338 / 1338

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

446 / 446

position of stopcodon in wt / mu cDNA

1706 / 1706

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

369 / 369

chromosome

strand

last intron/exon boundary

1536

theoretical NMD boundary in CDS

1117

length of CDS

1338

coding sequence (CDS) position

792

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

1160

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

24850

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

41928214

original gDNA sequence snippet

TGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCAT

altered gDNA sequence snippet

TGCCCCATCATCTTCTTCTGGCGGAACAATGGCTACGCCAT

original cDNA sequence snippet

TGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCAT

altered cDNA sequence snippet

TGCCCCATCATCTTCTTCTGGCGGAACAATGGCTACGCCAT

wildtype AA sequence

MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE
FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY
ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG
NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA
ASEGDAHAGF NFAATLECPI IFFCRNNGYA ISTPTSEQYR GDGIAARGPG YGIMSIRVDG
NDVFAVYNAT KEARRRAVAE NQPFLIEAMT YRIGHHSTSD DSSAYRSVDE VNYWDKQDHP
ISRLRHYLLS QGWWDEEQEK AWRKQSRRKV MEAFEQAERK PKPNPNLLFS DVYQEMPAQL
RKQQESLARH LQTYGEHYPL DHFDK*

mutated AA sequence

MAVAIAAARV WRLNRGLSQA ALLLLRQPGA RGLARSHPPR QQQQFSSLDD KPQFPGASAE
FIDKLEFIQP NVISGIPIYR VMDRQGQIIN PSEDPHLPKE KVLKLYKSMT LLNTMDRILY
ESQRQGRISF YMTNYGEEGT HVGSAAALDN TDLVFGQYRE AGVLMYRDYP LELFMAQCYG
NISDLGKGRQ MPVHYGCKER HFVTISSPLA TQIPQAVGAA YAAKRANANR VVICYFGEGA
ASEGDAHAGF NFAATLECPI IFFWRNNGYA ISTPTSEQYR GDGIAARGPG YGIMSIRVDG
NDVFAVYNAT KEARRRAVAE NQPFLIEAMT YRIGHHSTSD DSSAYRSVDE VNYWDKQDHP
ISRLRHYLLS QGWWDEEQEK AWRKQSRRKV MEAFEQAERK PKPNPNLLFS DVYQEMPAQL
RKQQESLARH LQTYGEHYPL DHFDK*

speed

0.66 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

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999999983352 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM045934)
known disease mutation: rs2382 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr19:41928214C>GN/A show variant in all transcripts IGV

HGNC symbol

BCKDHA

Ensembl transcript ID

ENST00000457836

Genbank transcript ID

N/A

UniProt peptide

P12694

alteration type

single base exchange

alteration region

CDS

DNA changes

c.726C>G
cDNA.731C>G
g.24850C>G

AA changes

C242W Score: 215 explain score(s)

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

242

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.565	1
	0.979	1
(flanking)	3.773	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	24849	wt: 0.82 / mu: 0.96	wt: GTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCA mu: GTGCCCCATCATCTTCTTCTGGCGGAACAATGGCTACGCCA	tctg\|CCGG
Acc marginally increased	24844	wt: 0.5136 / mu: 0.5513 (marginal change - not scored)	wt: CTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGCTA mu: CTTGAGTGCCCCATCATCTTCTTCTGGCGGAACAATGGCTA	cttc\|TTCT
Acc increased	24842	wt: 0.48 / mu: 0.62	wt: CACTTGAGTGCCCCATCATCTTCTTCTGCCGGAACAATGGC mu: CACTTGAGTGCCCCATCATCTTCTTCTGGCGGAACAATGGC	atct\|TCTT

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

242

mutated

not conserved

242

Ptroglodytes

all identical

ENSPTRG00000011025

264

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000060376

265

Ggallus

no homologue

Trubripes

all identical

ENSTRUG00000009706

265

Drerio

all identical

ENSDARG00000040555

265

Dmelanogaster

all identical

FBgn0037709

257

Celegans

all identical

Y39E4A.3

249

Xtropicalis

all identical

ENSXETG00000018753

227

protein features

start (aa)	end (aa)	feature	details
240	242	HELIX		lost
244	255	HELIX		might get lost (downstream of altered splice site)
248	248	CONFLICT	A -> D (in Ref. 6; AAA35590).	might get lost (downstream of altered splice site)
260	266	STRAND		might get lost (downstream of altered splice site)
268	270	STRAND		might get lost (downstream of altered splice site)
275	277	HELIX		might get lost (downstream of altered splice site)
280	282	STRAND		might get lost (downstream of altered splice site)
285	287	HELIX		might get lost (downstream of altered splice site)
289	291	HELIX		might get lost (downstream of altered splice site)
294	299	STRAND		might get lost (downstream of altered splice site)
303	320	HELIX		might get lost (downstream of altered splice site)
324	329	STRAND		might get lost (downstream of altered splice site)
337	337	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
342	344	HELIX		might get lost (downstream of altered splice site)
345	345	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
347	347	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
351	357	HELIX		might get lost (downstream of altered splice site)
360	368	HELIX		might get lost (downstream of altered splice site)
369	372	TURN		might get lost (downstream of altered splice site)
376	399	HELIX		might get lost (downstream of altered splice site)
405	408	HELIX		might get lost (downstream of altered splice site)
409	411	TURN		might get lost (downstream of altered splice site)
412	415	STRAND		might get lost (downstream of altered splice site)
418	434	HELIX		might get lost (downstream of altered splice site)
435	437	HELIX		might get lost (downstream of altered splice site)
440	442	HELIX		might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1347 / 1347

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

449 / 449

position of stopcodon in wt / mu cDNA

1352 / 1352

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

6 / 6

chromosome

strand

last intron/exon boundary

1182

theoretical NMD boundary in CDS

1126

length of CDS

1347

coding sequence (CDS) position

726

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

731

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

24850

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

41928214

original gDNA sequence snippet

TGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCAT

altered gDNA sequence snippet

TGCCCCATCATCTTCTTCTGGCGGAACAATGGCTACGCCAT

original cDNA sequence snippet

TGCCCCATCATCTTCTTCTGCCGGAACAATGGCTACGCCAT

altered cDNA sequence snippet

TGCCCCATCATCTTCTTCTGGCGGAACAATGGCTACGCCAT

wildtype AA sequence

MAVAIAAARV WRLNRGLSQQ QQFSSLDDKP QFPGASAEFI DKLEFIQPNV ISGIPIYRVM
DRQGQIINPS EDPHLPKEKV LKLYKSMTLL NTMDRILYES QRQGRISFYM TNYGEEGTHV
GSAAALDNTD LVFGQYREAG VLMYRDYPLE LFMAQCYGNI SDLGKGRQMP VHYGCKERHF
VTISSPLATQ IPQAVGAAYA AKRANANRVV ICYFGEGAAS EGDAHAGFNF AATLECPIIF
FCRNNGYAIS TPTSEQYRGD GIAARGPGYG IMSIRVDGND VFAVYNATKE ARRRAVAENQ
PFLIEAMTYS SSPILPPDPH SREPTLTWGP LPLCRIGHHS TSDDSSAYRS VDEVNYWDKQ
DHPISRLRHY LLSQGWWDEE QEKAWRKQSR RKVMEAFEQA ERKPKPNPNL LFSDVYQEMP
AQLRKQQESL ARHLQTYGEH YPLDHFDK*

mutated AA sequence

MAVAIAAARV WRLNRGLSQQ QQFSSLDDKP QFPGASAEFI DKLEFIQPNV ISGIPIYRVM
DRQGQIINPS EDPHLPKEKV LKLYKSMTLL NTMDRILYES QRQGRISFYM TNYGEEGTHV
GSAAALDNTD LVFGQYREAG VLMYRDYPLE LFMAQCYGNI SDLGKGRQMP VHYGCKERHF
VTISSPLATQ IPQAVGAAYA AKRANANRVV ICYFGEGAAS EGDAHAGFNF AATLECPIIF
FWRNNGYAIS TPTSEQYRGD GIAARGPGYG IMSIRVDGND VFAVYNATKE ARRRAVAENQ
PFLIEAMTYS SSPILPPDPH SREPTLTWGP LPLCRIGHHS TSDDSSAYRS VDEVNYWDKQ
DHPISRLRHY LLSQGWWDEE QEKAWRKQSR RKVMEAFEQA ERKPKPNPNL LFSDVYQEMP
AQLRKQQESL ARHLQTYGEH YPLDHFDK*

speed

0.82 s

Problems

data problem

No NCBI gene ID found for this transcript

back to results table