Variant position: 407 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 ARVRDLFALARKNAPCILFI DEIDAVGRKRGRGNFGGQSEQ
Mouse ARVRDLFALARKNAPCILFI DEIDAVGRKRGRGNFGGQSEQ
Bovine ARVRDLFALARKNAPCILFI DEIDAVGRKRGRGNFGGQSEQ
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.
ATPase domain AFG3L2 mutations alter OPA1 processing and cause optic neuropathy.
Caporali L.; Magri S.; Legati A.; Del Dotto V.; Tagliavini F.; Balistreri F.; Nasca A.; La Morgia C.; Carbonelli M.; Valentino M.L.; Lamantea E.; Baratta S.; Schoels L.; Schuele R.; Barboni P.; Cascavilla M.L.; Maresca A.; Capristo M.; Ardissone A.; Pareyson D.; Cammarata G.; Melzi L.; Zeviani M.; Peverelli L.; Lamperti C.; Marzoli S.B.; Fang M.; Synofzik M.; Ghezzi D.; Carelli V.; Taroni F.;
Ann. Neurol. 88:18-32(2020)
Cited for: INVOLVEMENT IN OPA12; VARIANTS SPAX5 GLU-306; VAL-462 AND LYS-620; VARIANTS OPA12 PHE-346; SER-377; GLY-407; ILE-430; VAL-462; LYS-465; LEU-514 AND CYS-605; CHARACTERIZATION OF VARIANTS OPA12 GLY-407; VAL-462; LYS-465 AND LEU-514; CHARACTERIZATION OF VARIANT SPAX5 LYS-620;
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.