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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08559: Variant p.Phe205Leu

Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial
Gene: PDHA1
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Variant information Variant position: help 205 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 Phenylalanine (F) to Leucine (L) at position 205 (F205L, p.Phe205Leu). 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 aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 205 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 GKDEVCLTLYGDGAANQGQI F EAYNMAALWKLPCIFICENN 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                         GKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENN

Chimpanzee                    GKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENN

Mouse                         GKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENN

Rat                           GKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENN

Bovine                        GKDEVCLTLYGDGAANQGQIFEAYNMAALWKLPCIFICENN

Caenorhabditis elegans        EQKNVCVTLYGDGAANQGQLFEATNMAKLWDLPVLFVCENN

Slime mold                    KTGNVCLAMYGDGAANQGQLFEAFNMASLWKLPVIFICENN

Baker's yeast                 NEDACSFTLYGDGASNQGQVFESFNMAKLWNLPVVFCCENN

Fission yeast                 EKPTTTFALYGDGASNQGQAFEAFNMAKLWGLPVIFACENN
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
Helix 202 – 213



Literature citations
Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.
Dahl H.-H.M.; Brown G.K.;
Hum. Mutat. 3:152-155(1994)
Cited for: VARIANT PDHAD LEU-205; Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
Chun K.; MacKay N.; Petrova-Benedict R.; Federico A.; Fois A.; Cole D.E.C.; Robertson E.; Robinson B.H.;
Am. J. Hum. Genet. 56:558-569(1995)
Cited for: VARIANTS PDHAD CYS-72; LEU-205; GLY-263; ARG-311 DEL AND HIS-378;
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.