MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000356489
Querying Taster for transcript #2: ENST00000320393
MT speed 0.65 s - this script 3.101924 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000356489	BCKDHB	Deleterious	98\|2	simple_aae		No	Yes			Single base exchange		Normal	Amino acid sequence changed Known disease mutation: ClinVar ID 2680128 (pathogenic) Protein features (might be) affected
ENST00000320393(MANE Select)	BCKDHB	Deleterious	98\|2	simple_aae		No	Yes			Single base exchange		Normal	Amino acid sequence changed Known disease mutation: ClinVar ID 2680128 (pathogenic) Protein features (might be) affected

MutationT@ster 2025

Variant:

6:80201009C>T_1_ENST00000356489

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Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 2680128 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 98|2 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr6:80201009C>T (GRCh38)

Gene symbol

BCKDHB

Gene constraints

LOEUF: 1.21, LOF (oe): 0.91, misssense (oe): 1.00, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000356489.9

Genbank transcript ID

NM_000056 (by similarity)

UniProt / AlphaMissense peptide

ODBB_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.818C>T
g.94363C>T

AA changes

AAE:	T273I	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Maple syrup urine disease

pathogenic

ClinVar

Variant DBs

dbSNP ID	rs769886312
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		273	Q	A	E	V	I	Q	E	G	S	D	V	T	L	V	A	W	G	T	Q	V	H	V	I	R
mutated	not conserved	273	Q	A	E	V	I	Q	E	G	S	D	V	I	L	V	A	W	G	T	Q	V	H	V	I
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
51	392	CHAIN		lost
270	276	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.793	1
	7.445	1
(flanking)	-0.134	0.834

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

6

Strand

1

Original gDNA sequence snippet

ACAGGAAGGGAGTGATGTTACTCTAGTTGCCTGGGGCACTC

Altered gDNA sequence snippet

ACAGGAAGGGAGTGATGTTATTCTAGTTGCCTGGGGCACTC

Original cDNA sequence snippet

ACAGGAAGGGAGTGATGTTACTCTAGTTGCCTGGGGCACTC

Altered cDNA sequence snippet

ACAGGAAGGGAGTGATGTTATTCTAGTTGCCTGGGGCACTC

Wildtype AA sequence

MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP
EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF
NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL
TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP
KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE
VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV
CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY*

Mutated AA sequence

MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP
EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF
NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL
TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP
KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVILVAWGTQ VHVIREVASM AKEKLGVSCE
VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV
CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY*

Position of stopcodon in wt / mu CDS

1179 / 1179

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

393 / 393

Position of stopcodon in wt / mu cDNA

1226 / 1226

Position of start ATG in wt / mu cDNA

48 / 48

Last intron/exon boundary

1234

Theoretical NMD boundary in CDS

1136

Length of CDS

1179

Coding sequence (CDS) position

818

cDNA position

865

gDNA position

94363

Chromosomal position

80201009

Speed

0.25 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

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MutationT@ster 2025

Variant:

6:80201009C>T_2_ENST00000320393

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 2680128 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 98|2 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr6:80201009C>T (GRCh38)

Gene symbol

BCKDHB

Gene constraints

LOEUF: 1.21, LOF (oe): 0.91, misssense (oe): 1.00, synonymous (oe): 1.15 ? (gnomAD)

Ensembl transcript ID

ENST00000320393.9

Genbank transcript ID

NM_183050 (exact from MANE), NM_001318975 (by similarity), NM_001424037 (by similarity), NM_001424036 (by similarity), NM_001424035 (by similarity), NM_001424039 (by similarity), NM_001424043 (by similarity), NM_001424040 (by similarity), NM_001424041 (by similarity), NM_001424038 (by similarity), NM_001424042 (by similarity), NM_001424044 (by similarity)

UniProt / AlphaMissense peptide

ODBB_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.818C>T
g.94363C>T

AA changes

AAE:	T273I	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Maple syrup urine disease

pathogenic

ClinVar

Variant DBs

dbSNP ID	rs769886312
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	3	3

Protein conservation

Species	Match	AA	Alignment
Human		273	Q	A	E	V	I	Q	E	G	S	D	V	T	L	V	A	W	G	T	Q	V	H	V	I	R
mutated	not conserved	273	Q	A	E	V	I	Q	E	G	S	D	V	I	L	V	A	W	G	T	Q	V	H	V	I
Ptroglodytes	no alignment	n/a
Mmulatta	no alignment	n/a
Fcatus	no alignment	n/a
Mmusculus	no alignment	n/a
Ggallus	no alignment	n/a
Trubripes	no alignment	n/a
Drerio	no homologue
Dmelanogaster	no alignment	n/a
Celegans	no alignment	n/a
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
51	392	CHAIN		lost
270	276	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	8.793	1
	7.445	1
(flanking)	-0.134	0.834

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

6

Strand

1

Original gDNA sequence snippet

ACAGGAAGGGAGTGATGTTACTCTAGTTGCCTGGGGCACTC

Altered gDNA sequence snippet

ACAGGAAGGGAGTGATGTTATTCTAGTTGCCTGGGGCACTC

Original cDNA sequence snippet

ACAGGAAGGGAGTGATGTTACTCTAGTTGCCTGGGGCACTC

Altered cDNA sequence snippet

ACAGGAAGGGAGTGATGTTATTCTAGTTGCCTGGGGCACTC

Wildtype AA sequence

MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP
EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF
NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL
TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP
KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVTLVAWGTQ VHVIREVASM AKEKLGVSCE
VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV
CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY*

Mutated AA sequence

MAVVAAAAGW LLRLRAAGAE GHWRRLPGAG LARGFLHPAA TVEDAAQRRQ VAHFTFQPDP
EPREYGQTQK MNLFQSVTSA LDNSLAKDPT AVIFGEDVAF GGVFRCTVGL RDKYGKDRVF
NTPLCEQGIV GFGIGIAVTG ATAIAEIQFA DYIFPAFDQI VNEAAKYRYR SGDLFNCGSL
TIRSPWGCVG HGALYHSQSP EAFFAHCPGI KVVIPRSPFQ AKGLLLSCIE DKNPCIFFEP
KILYRAAAEE VPIEPYNIPL SQAEVIQEGS DVILVAWGTQ VHVIREVASM AKEKLGVSCE
VIDLRTIIPW DVDTICKSVI KTGRLLISHE APLTGGFASE ISSTVQEECF LNLEAPISRV
CGYDTPFPHI FEPFYIPDKW KCYDALRKMI NY*

Position of stopcodon in wt / mu CDS

1179 / 1179

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

393 / 393

Position of stopcodon in wt / mu cDNA

1202 / 1202

Position of start ATG in wt / mu cDNA

24 / 24

Last intron/exon boundary

1061

Theoretical NMD boundary in CDS

987

Length of CDS

1179

Coding sequence (CDS) position

818

cDNA position

841

gDNA position

94363

Chromosomal position

80201009

Speed

0.40 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table