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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot A6NFY7: Variant p.Gly57Arg

Succinate dehydrogenase assembly factor 1, mitochondrial
Gene: SDHAF1
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Variant information Variant position: help 57 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 Arginine (R) at position 57 (G57R, p.Gly57Arg). 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 large size and basic (R) 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 MC2DN2; abolishes binding to the iron-sulfur transfer complex formed by HSC20, HSPA9 and ICSU; prevents interaction with SDHB; leads to rapid degradation of SDHAF1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 57 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 115 The length of the canonical sequence.
Location on the sequence: help RQHAGLPRSDVLRIEYLYRR G RRQLQLLRSGHATAMGAFVR 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.
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 1 – 115 Succinate dehydrogenase assembly factor 1, mitochondrial
Region 53 – 65 Interaction with SDHB



Literature citations
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
Ghezzi D.; Goffrini P.; Uziel G.; Horvath R.; Klopstock T.; Lochmuller H.; D'Adamo P.; Gasparini P.; Strom T.M.; Prokisch H.; Invernizzi F.; Ferrero I.; Zeviani M.;
Nat. Genet. 41:654-656(2009)
Cited for: VARIANTS MC2DN2 PRO-55 AND ARG-57; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.
Ohlenbusch A.; Edvardson S.; Skorpen J.; Bjornstad A.; Saada A.; Elpeleg O.; Gaertner J.; Brockmann K.;
Orphanet J. Rare Dis. 7:69-69(2012)
Cited for: VARIANTS MC2DN2 8-GLN--ARG-115 DEL; PRO-55 AND ARG-57; Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
Helman G.; Caldovic L.; Whitehead M.T.; Simons C.; Brockmann K.; Edvardson S.; Bai R.; Moroni I.; Taylor J.M.; Van Haren K.; Taft R.J.; Vanderver A.; van der Knaap M.S.;
Ann. Neurol. 79:379-386(2016)
Cited for: VARIANTS MC2DN2 8-GLN--ARG-115 DEL; 52-TYR--ARG-115 DEL; PRO-55; ARG-57 AND GLU-57; Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB.
Maio N.; Ghezzi D.; Verrigni D.; Rizza T.; Bertini E.; Martinelli D.; Zeviani M.; Singh A.; Carrozzo R.; Rouault T.A.;
Cell Metab. 23:292-302(2016)
Cited for: CHARACTERIZATION OF VARIANTS MC2DN2 PRO-55 AND ARG-57; VARIANT MC2DN2 35-GLU--ARG-115 DEL; FUNCTION; INTERACTION WITH HSC20 AND SDHB; ROLE OF LYR MOTIFS; MUTAGENESIS OF 14-LYS--ARG-16 AND 53-LYS--ARG-55;
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.