UniProtKB/Swiss-Prot P11177: Variant p.Leu31Val

Pyruvate dehydrogenase E1 component subunit beta, mitochondrial
Gene: PDHB
Chromosomal location: 3p14.2-p21.1
Variant information

Variant position:  31
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Leucine (L) to Valine (V) at position 31 (L31V, p.Leu31Val).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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



Sequence information

Variant position:  31
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  359
The length of the canonical sequence.

Location on the sequence:   PLREVSGLLKRRFHWTAPAA  L QVTVRDAINQGMDEELERDE
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         PLRE---VSGLLKRRFHWTAP----AALQVTVRDAINQGMDEELERDE

Mouse                         PLRQ---ASGLLKRRFHRSAP----AAVQLTVREAINQGMD

Rat                           PLRQ---ASGLLKRRFHRSAP----AAVQLTVREAINQGMD

Bovine                        PLEQ---VSGLLRRRFHRTAP----AALQVTVREAINQGMD

Caenorhabditis elegans        ALRK---CGNLFVARLAGTST---RAASTMTVRDALNQAMD

Slime mold                    ILKK---IQPSLLVNFRIITRT--YATKEVTVRDAINSALD

Baker's yeast                 VARR---APTSFVRPSAAAAALRFSSTKTMTVREALNSAMA

Fission yeast                 TSRSWKLLSSTIAKRYSSSSN----GVKEMTVRDALNSAME

Sequence annotation in neighborhood:  
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 31 – 359 Pyruvate dehydrogenase E1 component subunit beta, mitochondrial
Alternative sequence 16 – 33 Missing. In isoform 2.


Literature citations

Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast.
Huh T.L.; Casazza J.P.; Huh J.W.; Chi Y.T.; Song B.J.;
J. Biol. Chem. 265:13320-13326(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT VAL-31;

Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase.
Koike K.; Ohta S.; Urata Y.; Kagawa Y.; Koike M.;
Proc. Natl. Acad. Sci. U.S.A. 85:41-45(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT VAL-31;

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.