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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08559: Variant p.Met210Val

Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
Gene: PDHA1
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Variant information Variant position: help 210 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 Methionine (M) to Valine (V) at position 210 (M210V, p.Met210Val). 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 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: help 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
Variant description: help In PDHAD. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 210 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 390 The length of the canonical sequence.
Location on the sequence: help CLTLYGDGAANQGQIFEAYN M AALWKLPCIFICENNRYGMG 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                         CLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMG

Chimpanzee                    CLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMG

Mouse                         CLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMG

Rat                           CLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMG

Bovine                        CLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENNRYGMG

Caenorhabditis elegans        CVTLYGDGAANQGQLFEATNMAKLWDLPVLFVCENNGFGMG

Slime mold                    CLAMYGDGAANQGQLFEAFNMASLWKLPVIFICENNKYGMG

Baker's yeast                 SFTLYGDGASNQGQVFESFNMAKLWNLPVVFCCENNKYGMG

Fission yeast                 TFALYGDGASNQGQAFEAFNMAKLWGLPVIFACENNKYGMG
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 30 – 390 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
Binding site 196 – 196
Binding site 196 – 196
Binding site 196 – 196
Binding site 197 – 197
Binding site 197 – 197
Binding site 198 – 198
Binding site 198 – 198
Binding site 225 – 225
Binding site 225 – 225
Binding site 225 – 225
Binding site 227 – 227
Binding site 227 – 227
Helix 202 – 213



Literature citations
Three new mutations of the pyruvate dehydrogenase alpha subunit: a point mutation (M181V), 3 bp deletion (-R282), and 16 bp insertion/frameshift (K358SVS-->TVDQS).
Tripatara A.; Kerr D.S.; Lusk M.M.; Kolli M.; Tan J.; Patel M.S.;
Hum. Mutat. 8:180-182(1996)
Cited for: VARIANTS PDHAD VAL-210 AND ARG-311 DEL;
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.