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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60313: Variant p.Ser646Leu

Dynamin-like GTPase OPA1, mitochondrial
Gene: OPA1
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Variant information Variant position: help 646 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 Serine (S) to Leucine (L) at position 646 (S646L, p.Ser646Leu). 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 small size and polar (S) to medium size and hydrophobic (L) 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. Any additional useful information about the variant.


Sequence information Variant position: help 646 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 ERVSTHVIENIYLPAAQTMN S GTFNTTVDIKLKQWTDKQLP 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                         ERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLP

Mouse                         ERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLP

Rat                           ERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLP

Chicken                       ERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLP

Zebrafish                     ERVSTHVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLP
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 GTPase OPA1, long form
Chain 195 – 960 Dynamin-like GTPase OPA1, short form
Topological domain 114 – 770 Mitochondrial intermembrane
Region 589 – 836 Stalk region
Mutagenesis 626 – 626 E -> A. In interface mutant 1b; strongly decreased ability to mediate mitochondrial fusion; when associated with A-630, A-668 and A-671.
Mutagenesis 627 – 627 R -> A. In interface mutant 1a; strongly decreased ability to mediate mitochondrial fusion; when associated with A-663 and A-683.
Mutagenesis 630 – 630 T -> A. In interface mutant 1b; strongly decreased ability to mediate mitochondrial fusion; when associated with A-626, A-668 and A-671.
Mutagenesis 631 – 631 H -> A. In interface mutant 1e; strongly decreased ability to mediate mitochondrial fusion.
Mutagenesis 651 – 651 T -> A. In mutant control 4; does not affect ability to mediate mitochondrial fusion.
Mutagenesis 659 – 659 Q -> A. In interface mutant 1c; strongly decreased ability to mediate mitochondrial fusion.
Mutagenesis 663 – 663 K -> A. In interface mutant 1a; strongly decreased ability to mediate mitochondrial fusion; when associated with A-627 and A-683.



Literature citations
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.