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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60313: Variant p.Cys551Tyr

Dynamin-like 120 kDa protein, mitochondrial
Gene: OPA1
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Variant information Variant position: help 551 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 551 (C551Y, p.Cys551Tyr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In OPA1 and DOA+. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 551 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 960 The length of the canonical sequence.
Location on the sequence: help TSMLKAHQVTTRNLSLAVSD C FWKMVRESVEQQADSFKATR 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATR

Mouse                         TSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATR

Rat                           TSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKATR

Chicken                       TSMLKAHQVTTKNLSLAVSDCFWKMVRESVEQQADAFKATR

Zebrafish                     DGMLKAHQVTTKNLSLAVSDCFWKMVRESVEQQADAFKASR
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 88 – 960 Dynamin-like 120 kDa protein, mitochondrial
Chain 195 – 960 Dynamin-like 120 kDa protein, form S1
Topological domain 114 – 960 Mitochondrial intermembrane
Domain 285 – 561 Dynamin-type G
Helix 541 – 559



Literature citations
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.;
Brain 134:E169-E169(2011)
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; PHE-ILE-PHE-463 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;
Disclaimer: 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.