Variant position: 2 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 736 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 M EALIPVINKLQDVFNTVGADI
Mouse M EALIPVINKLQDVFNTVGADI
Rat M EALIPVINKLQDVFNTVGADI
Bovine M EALIPVINKLQDVFNTVGADI
Zebrafish M EALIPVINKLQDVFNTVGADI
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
1 – 736 Dynamin-1-like protein
1 – 1 N-acetylmethionine
1 – 43 MEALIPVINKLQDVFNTVGADIIQLPQIVVVGTQSSGKSSVLE -> MFHKKINGKQQEKKMTLLHGKTQDTFLKGWKQKNGVNFFTPKI. In isoform 7.
Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission.
Gerber S.; Charif M.; Chevrollier A.; Chaumette T.; Angebault C.; Kane M.S.; Paris A.; Alban J.; Quiles M.; Delettre C.; Bonneau D.; Procaccio V.; Amati-Bonneau P.; Reynier P.; Leruez S.; Calmon R.; Boddaert N.; Funalot B.; Rio M.; Bouccara D.; Meunier I.; Sesaki H.; Kaplan J.; Hamel C.P.; Rozet J.M.; Lenaers G.;
Cited for: INVOLVEMENT IN OPA5; VARIANTS OPA5 ALA-2 AND GLU-192; CHARACTERIZATION OF VARIANTS OPA5 ALA-2 AND GLU-192; SUBCELLULAR LOCATION;
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