Variant position: 932 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 960 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 EVLEDFAEDGEKKIKLLTGK RVQLAEDLKKVREIQEKLDAF
Mouse EVLEDFAEDGEKKVKLLTGK RVQLAEDLKKVREIQEKLDAF
Rat EVLEDFAEDGEKKVKLLTGK RVQLAEDLKKVREIQEKLDAF
Chicken EVLEDFAEDNEKKVKLLTGK RVQLAEDLKKVREIQEKLEAF
Zebrafish EVLEDFGEDNEKKVQLITGR RVQLAEDLKKVREIQEKLEAF
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
88 – 960 Dynamin-like 120 kDa protein, mitochondrial
195 – 960 Dynamin-like 120 kDa protein, form S1
114 – 960 Mitochondrial intermembrane
895 – 960
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Ferre M.; Bonneau D.; Milea D.; Chevrollier A.; Verny C.; Dollfus H.; Ayuso C.; Defoort S.; Vignal C.; Zanlonghi X.; Charlin J.-F.; Kaplan J.; Odent S.; Hamel C.P.; Procaccio V.; Reynier P.; Amati-Bonneau P.;
Hum. Mutat. 30:E692-E705(2009)
Cited for: VARIANTS OPA1 MET-95; CYS-102; 293-VAL-VAL-294 DEL; ARG-310; THR-357; MET-382; PRO-396; 429-PRO-ASN-430 DEL; ASP-430; ARG-449; 463-ILE-PHE-464 INS; LYS-487; ARG-545; TYR-551; GLN-590; PRO-593; LEU-646; ASP-768; TRP-781; TYR-823; LEU-882; PRO-887; CYS-932 AND PRO-949;
Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.
Nochez Y.; Arsene S.; Gueguen N.; Chevrollier A.; Ferre M.; Guillet V.; Desquiret V.; Toutain A.; Bonneau D.; Procaccio V.; Amati-Bonneau P.; Pisella P.-J.; Reynier P.;
Mol. Vis. 15:598-608(2009)
Cited for: VARIANT OPA1 CYS-932;
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