Variant position: 118 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 463 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KAQVLAGGRGKGTFESGLKG GVKIVFSPEEAKAVSSQMIGK
Mouse KAQVLAGGRGKGTFTSGLKG GVKIVFSPEEAKAVSSQMIGQ
Bovine KAQVLAGGRGKGTFESGLKG GVKIVFSPEEAKAVSSQMIGK
Caenorhabditis elegans KAQVLAGGRGKGRFSSGLQG GVQIVFTPDEVKQKAGMMIGA
Slime mold KAQVLAGGRGKGIFTSGLKG GVQLCSSAEDVKKFASKMLGH
Sequence annotation in neighborhood: 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.
Type Positions Description
53 – 463 Succinate--CoA ligase [ADP-forming] subunit beta, mitochondrial
61 – 288 ATP-grasp
98 – 98 ATP
129 – 129 N6-acetyllysine
118 – 124
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R.; Dionisi-Vici C.; Steuerwald U.; Lucioli S.; Deodato F.; Di Giandomenico S.; Bertini E.; Franke B.; Kluijtmans L.A.; Meschini M.C.; Rizzo C.; Piemonte F.; Rodenburg R.; Santer R.; Santorelli F.M.; van Rooij A.; Vermunt-de Koning D.; Morava E.; Wevers R.A.;
Cited for: VARIANTS MTDPS5 ARG-118 AND CYS-284;
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.