Table 12.

Maple Syrup Urine Disease: Notable Pathogenic Variants by Gene

Gene 1Reference SequencesDNA Nucleotide ChangePredicted Protein Change (Alias 2)Comment
BCKDHA NM_000709​.2
NP_000700​.1 		c.1312T>Ap.Tyr438Asn (Tyr393Asn)Founder variant in Swiss Mennonites [Fisher et al 1991, Puffenberger 2003] (See Prevalence.)
NM_000709​.2 c.288+9C>T--Assoc w/variant MSUD [Fernández-Guerra et al 2010]
NM_000709​.2
NP_000700​.1 		c.919G>Ap.Arg297HisAssoc w/variant MSUD [Flaschker et al 2007]
c.982G>Ap.Ala328ThrAssoc w/variant MSUD [Flaschker et al 2007]
BCKDHB NM_183050​.2
NP_898871​.1 		c.548G>Cp.Arg183ProFounder variant in Ashkenazi Jews [Edelmann et al 2001]
c.598C>Gp.Pro200AlaAssoc w/variant MSUD [Flaschker et al 2007]
c.767A>Gp.Tyr256CysAssoc w/intermittent MSUD [Guo et al 2015]
c.832G>Ap.Gly278SerAssoc w/intermittent MSUD [Edelmann et al 2001, Henneke et al 2003, Flaschker et al 2007, Puckett et al 2010, Boros et al 2017, Szuch & Auriemma 2018]
DBT NM_001918​.4
NP_001909​.3 		c.747_773delp.Gly249_Lys257delAssoc w/intermittent MSUD [Flaschker et al 2007]
c.827T>Gp.Phe276CysAssoc w/intermittent MSUD [Chuang et al 1991]
c.871C>Gp.Arg291GlyAssoc w/intermittent MSUD [Chuang et al 1991]
c.901C>Tp.Arg301CysAssoc w/intermittent MSUD [Brodtkorb et al 2010]
c.920T>Cp.Phe307SerAssoc w/variant MSUD [Flaschker et al 2007]
c.1196C>Gp.Ser399CysFounder variant in the Malay population [Ali & Ngu 2018]
c.1430T>Gp.Met477ArgAssoc w/intermittent MSUD [Puckett et al 2010]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Genes from Table 1 in alphabetic order

2.

Variant designation that does not conform to current naming conventions

From: Maple Syrup Urine Disease

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