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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P31040: Variant p.Gly555Glu

Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
Gene: SDHA
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Variant information Variant position: help 555 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 Glycine (G) to Glutamate (E) at position 555 (G555E, p.Gly555Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 MC2DN1 and CMD1GG. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 555 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 GCGKISKLYGDLKHLKTFDR G MVWNTDLVETLELQNLMLCA 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                         GCGKISKLYGDL-KHLKTFDRGMVWNTDLVETLELQNLMLCA

Mouse                         GCEKISQLYGDL-KHLKTFDRGMVWNTDLVETLELQNLMLC

Rat                           GCEKVSQLYGDL-QHLKTFDRGMVWNTDLVETLELQNLMLC

Pig                           GCEKILRLYGDL-QHLKTFDRGMVWNTDLVETLELQNLMLC

Bovine                        GCEKISSLYGDL-RHLKTFDRGMVWNTDLVETLELQNLMLC

Chicken                       GCEKLSQIYCDL-AHLKTFDRGIVWNTDLVETLELQNLMLC

Xenopus tropicalis            GCEKLSAINSTM-DDIKTFDRGIVWNTDLVETLELQNLMLC

Zebrafish                     GCVKMESVYKSM-DDIKTFDRGIVWNTDLVETLELQNLMLN

Caenorhabditis elegans        GVKVLSKLYKDQ-AHLNVADKGLVWNSDLIETLELQNLLIN

Drosophila                    GVNKMKEIYKQF-KDIKVVDRSLIWNSDLVETLELQNLLAN

Slime mold                    GVELIDKCARSLINDLKTTDRTMIWNTDLIESLELQNLMTQ

Baker's yeast                 GVRNITAVEKTF-DDVKTTDRSMIWNSDLVETLELQNLLTC

Fission yeast                 GVKNIARVDGTY-KDIGIRDRGLIWNTDLVEALELRNLLTC
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
Beta strand 555 – 558



Literature citations
Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.
Van Coster R.; Seneca S.; Smet J.; Van Hecke R.; Gerlo E.; Devreese B.; Van Beeumen J.; Leroy J.G.; De Meirleir L.; Lissens W.;
Am. J. Med. Genet. A 120:13-18(2003)
Cited for: VARIANT MC2DN1 GLU-555; Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.
Levitas A.; Muhammad E.; Harel G.; Saada A.; Caspi V.C.; Manor E.; Beck J.C.; Sheffield V.; Parvari R.;
Eur. J. Hum. Genet. 18:1160-1165(2010)
Cited for: VARIANT CMD1GG GLU-555;
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.