Variant position: 272 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 DKGIHHRKLKKSLIDMYSEV LDVLSDYDASYNTQDHLPRVV
Mouse DKGIHHRKLKKSLIDMYSEV LDVLSDYDASYNTQDHLPRVV
Rat DKGIHHRKLKKSLIDMYSEV LDVLSDYDASYNTQDHLPRVV
Chicken DKGIHQRKLKKSLIDMYSEV LDILSDYDASYNTQDHLPRVV
Zebrafish DKGIHQRKVKKSLIDMYSEV LDILSDYDSNYNTQDHLPRVV
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
264 – 274
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
Baris O.; Delettre C.; Amati-Bonneau P.; Surget M.-O.; Charlin J.-F.; Catier A.; Derieux L.; Guyomard J.-L.; Dollfus H.; Jonveaux P.; Ayuso C.; Maumenee I.; Lorenz B.; Mohammed S.; Tourmen Y.; Bonneau D.; Malthiery Y.; Hamel C.; Reynier P.;
Hum. Mutat. 21:656-656(2003)
Cited for: VARIANTS OPA1 PRO-272; GLY-470; PRO-574 AND 700-LEU-LYS-701 DEL;
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.