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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12694: Variant p.Arg346Cys

2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
Gene: BCKDHA
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Variant information Variant position: help 346 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Cysteine (C) at position 346 (R346C, p.Arg346Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In MSUD1A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 346 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 445 The length of the canonical sequence.
Location on the sequence: help IEAMTYRIGHHSTSDDSSAY R SVDEVNYWDKQDHPISRLRH The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         IEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRH

Chimpanzee                    IEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPVSRLRH

Mouse                         IEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRQ

Bovine                        IEAMTYRIGHHSTSDDSSAYRSVDEVNYWDKQDHPISRLRH

Caenorhabditis elegans        IEAMTYRLGHHSTSDDSTAYRSSDEVQTWGDKDHPITRFKK

Slime mold                    IEAMTYRVGHHSTSDDSSRYRTVEEINAWKEGKNPISRLRN
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 46 – 445 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
Binding site 336 – 336
Modified residue 337 – 337 Phosphoserine; by BCKDK
Modified residue 338 – 338 Phosphothreonine
Modified residue 339 – 339 Phosphoserine
Modified residue 347 – 347 Phosphoserine
Modified residue 356 – 356 N6-acetyllysine; alternate
Modified residue 356 – 356 N6-succinyllysine; alternate
Alternative sequence 331 – 331 Y -> YSSSPILPPDPHSREPTLTWGPLPLC. In isoform 2.
Mutagenesis 337 – 337 S -> A. Substantially decreases the stability of the BCKD complex.
Mutagenesis 347 – 347 S -> A. Does not affect the stability of the BCKD complex.



Literature citations
Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene.
Park H.D.; Lee D.H.; Hong Y.H.; Kang D.H.; Lee Y.K.; Song J.; Lee S.Y.; Kim J.W.; Ki C.S.; Lee Y.W.;
Ann. Clin. Lab. Sci. 41:167-173(2011)
Cited for: VARIANTS MSUD1A MET-211; VAL-220; CYS-346; LYS-PRO-403 INS AND 427-LEU-ALA-428 DELINS PRO;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.