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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P31040: Variant p.Arg554Trp

Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
Gene: SDHA
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Variant information Variant position: help 554 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 Tryptophan (W) at position 554 (R554W, p.Arg554Trp). 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 large size and aromatic (W) 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 LS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 554 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 664 The length of the canonical sequence.
Location on the sequence: help EGCGKISKLYGDLKHLKTFD R GMVWNTDLVETLELQNLMLC 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                         EGCGKISKLYGDL-KHLKTFDRGMVWNTDLVETLELQNLMLC

Mouse                         EGCEKISQLYGDL-KHLKTFDRGMVWNTDLVETLELQNLML

Rat                           EGCEKVSQLYGDL-QHLKTFDRGMVWNTDLVETLELQNLML

Pig                           EGCEKILRLYGDL-QHLKTFDRGMVWNTDLVETLELQNLML

Bovine                        EGCEKISSLYGDL-RHLKTFDRGMVWNTDLVETLELQNLML

Chicken                       EGCEKLSQIYCDL-AHLKTFDRGIVWNTDLVETLELQNLML

Xenopus tropicalis            EGCEKLSAINSTM-DDIKTFDRGIVWNTDLVETLELQNLML

Zebrafish                     EGCVKMESVYKSM-DDIKTFDRGIVWNTDLVETLELQNLML

Caenorhabditis elegans        EGVKVLSKLYKDQ-AHLNVADKGLVWNSDLIETLELQNLLI

Drosophila                    DGVNKMKEIYKQF-KDIKVVDRSLIWNSDLVETLELQNLLA

Slime mold                    EGVELIDKCARSLINDLKTTDRTMIWNTDLIESLELQNLMT

Baker's yeast                 EGVRNITAVEKTF-DDVKTTDRSMIWNSDLVETLELQNLLT

Fission yeast                 EGVKNIARVDGTY-KDIGIRDRGLIWNTDLVEALELRNLLT
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 43 – 664 Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
Modified residue 538 – 538 N6-acetyllysine; alternate
Modified residue 538 – 538 N6-succinyllysine; alternate
Modified residue 541 – 541 N6-acetyllysine
Modified residue 547 – 547 N6-acetyllysine; alternate
Modified residue 547 – 547 N6-succinyllysine; alternate
Modified residue 550 – 550 N6-acetyllysine



Literature citations
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.
Bourgeron T.; Rustin P.; Chretien D.; Birch-MacHin M.A.; Bourgeois M.; Viegas-Pequignot E.; Munnich A.; Roetig A.;
Nat. Genet. 11:144-149(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 546-562; VARIANT LS TRP-554;
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.