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NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly) AND Maple syrup urine disease type 1B

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 23, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003534310.5

Allele description [Variation Report for NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly)]

NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly)

Gene:
BCKDHB:branched chain keto acid dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q14.1
Genomic location:
Preferred name:
NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly)
Other names:
V69G
HGVS:
  • NC_000006.12:g.80167690T>G
  • NG_009775.2:g.66064T>G
  • NM_000056.5:c.356T>G
  • NM_001318975.1:c.146T>G
  • NM_183050.4:c.356T>GMANE SELECT
  • NP_000047.1:p.Val119Gly
  • NP_001305904.1:p.Val49Gly
  • NP_898871.1:p.Val119Gly
  • NC_000006.11:g.80877407T>G
  • NR_134945.2:n.379T>G
Protein change:
V119G; VAL69GLY
Links:
OMIM: 248611.0004; dbSNP: rs121965005
NCBI 1000 Genomes Browser:
rs121965005
Molecular consequence:
  • NM_000056.5:c.356T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318975.1:c.146T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_183050.4:c.356T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134945.2:n.379T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Maple syrup urine disease type 1B (MSUD1B)
Synonyms:
MSUD type IB; MSUD type 3 (formerly); MSUD due to deficiency of e1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex
Identifiers:
MONDO: MONDO:0023692; MedGen: C2930990; OMIM: 620698

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032952OMIM
no assertion criteria provided
Pathogenic
(Apr 23, 2004) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.

Chuang JL, Wynn RM, Moss CC, Song JL, Li J, Awad N, Mandel H, Chuang DT.

J Biol Chem. 2004 Apr 23;279(17):17792-800. Epub 2004 Jan 23.

PubMed [citation]
PMID:
14742428

Details of each submission

From OMIM, SCV000032952.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an Israeli patient with classic maple syrup urine disease (MSUD1B; 620698), Chuang et al. (2004) identified a homozygous T-to-G transversion in the BCKDHB gene, resulting in a val69-to-gly (V69G) substitution. Functional expression studies in E. coli showed that the V69G mutant protein was not expressed, likely due to protein misfolding.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024