Variant position: 551 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 TSMLKAHQVTTRNLSLAVSD CFWKMVRESVEQQADSFKATR
Mouse TSMLKAHQVTTRNLSLAVSD CFWKMVRESVEQQADSFKATR
Rat TSMLKAHQVTTRNLSLAVSD CFWKMVRESVEQQADSFKATR
Chicken TSMLKAHQVTTKNLSLAVSD CFWKMVRESVEQQADAFKATR
Zebrafish DGMLKAHQVTTKNLSLAVSD CFWKMVRESVEQQADAFKASR
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
285 – 561 Dynamin-type G
541 – 559
Heterozygous OPA1 mutations in Behr syndrome.
Marelli C.; Amati-Bonneau P.; Reynier P.; Layet V.; Layet A.; Stevanin G.; Brissaud E.; Bonneau D.; Durr A.; Brice A.;
Cited for: INVOLVEMENT IN DOA+; VARIANT DOA+ TYR-551;
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;
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.