Variant position: 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 179 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 EEAAAELGAELLGEATIFIV GGGCLVLEYWRHQAQQRHKEE
Mouse EEAAAELGAELLGEATIFIV GGGCLVLEYWRHQTQQRNKEE
Bovine EEAAAELGAELLGEATIFLV ACGCLVLEYSRQKTQQRRKEG
Xenopus laevis EDAAAELGAELLGEAIIFLI GGGCMVAEYSRQSANSHRKEE
Zebrafish EDAAAELGAELLGEAIIFVI GGGCMVLEYSRQAANSRRKEE
Slime mold VNAAIDLGTEIVSEAFLLSV AIGLLLYETSRSSEKDKKKEE
Fission yeast DAKAVDAGATFLSETFIFTV AGGAILFETWRARRKEKNRRD
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
2 – 179 Optic atrophy 3 protein
52 – 179 VEMRTKMRIMGFRGTVIKPLNEEAAAELGAELLGEATIFIVGGGCLVLEYWRHQAQQRHKEEEQRAAWNALRDEVGHLALALEALQAQVQAAPPQGALEELRTELQEVRAQLCNPGRSASHAVPASKK -> LEMRTKMRIMGFNAAAIKPLNEGAAAELGAELLGEGIIFITACSCLMLEYWRHQLQQRRKEKERRVAREALRGEVGHLGLALEELQAQVQATSTQLALEELRAQLQEVRAHLCLRDPPPAPPVAPASEK. In isoform 2.
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
Reynier P.; Amati-Bonneau P.; Verny C.; Olichon A.; Simard G.; Guichet A.; Bonnemains C.; Malecaze F.; Malinge M.C.; Pelletier J.B.; Calvas P.; Dollfus H.; Belenguer P.; Malthiery Y.; Lenaers G.; Bonneau D.;
J. Med. Genet. 41:E110-E110(2004)
Cited for: VARIANTS OPA3 SER-93 AND GLU-105;
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