Variant position: 691 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 797 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 GQISFDLPRQGDMVLEKPYS EATARLIDDEVRILINDAYKR
Mouse GQISFDLPRQGDMVLEKPYS EATARMIDDEVRILISDAYRR
Bovine GQISFDLPRQGDMVLEKPYS EATARLIDDEVRILINDAYKR
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.
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Di Bella D.; Lazzaro F.; Brusco A.; Plumari M.; Battaglia G.; Pastore A.; Finardi A.; Cagnoli C.; Tempia F.; Frontali M.; Veneziano L.; Sacco T.; Boda E.; Brussino A.; Bonn F.; Castellotti B.; Baratta S.; Mariotti C.; Gellera C.; Fracasso V.; Magri S.; Langer T.; Plevani P.; Di Donato S.; Muzi-Falconi M.; Taroni F.;
Nat. Genet. 42:313-321(2010)
Cited for: VARIANTS SCA28 THR-432; LYS-691; GLU-694 AND GLN-702; TISSUE SPECIFICITY;
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
Magri S.; Fracasso V.; Plumari M.; Alfei E.; Ghezzi D.; Gellera C.; Rusmini P.; Poletti A.; Di Bella D.; Elia A.E.; Pantaleoni C.; Taroni F.;
Hum. Mutat. 39:2060-2071(2018)
Cited for: VARIANT OPA12 CYS-468; CHARACTERIZATION OF VARIANT OPA12 CYS-468; CHARACTERIZATION OF VARIANT SCA28 LYS-691; MUTAGENESIS OF GLU-575; FUNCTION; INTERACTION WITH SPG7;
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.