UniProtKB/SwissProt variant VAR

Optic atrophy 3 protein
Gene: OPA3
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Variant information Variant position:

93
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Serine (S) at position 93 (G93S, p.Gly93Ser).
Physico-chemical properties:

Change from glycine (G) to small size and polar (S)
BLOSUM score:

0
Variant description:

In OPA3.
Other resources:

Variant rs80356524 [ dbSNP | Ensembl ]

Sequence information Variant position:

93
Protein sequence length:

179
Location on the sequence:

EEAAAELGAELLGEATIFIV G GGCLVLEYWRHQAQQRHKEE
Residue conservation:

Human                         EEAAAELGAELLGEATIFIVGGGCLVLEYWRHQAQQRHKEE

Mouse                         EEAAAELGAELLGEATIFIVGGGCLVLEYWRHQTQQRNKEE

Bovine                        EEAAAELGAELLGEATIFLVACGCLVLEYSRQKTQQRRKEG

Xenopus laevis                EDAAAELGAELLGEAIIFLIGGGCMVAEYSRQSANSHRKEE

Zebrafish                     EDAAAELGAELLGEAIIFVIGGGCMVLEYSRQAANSRRKEE

Slime mold                    VNAAIDLGTEIVSEAFLLSVAIGLLLYETSRSSEKDKKKEE

Fission yeast                 DAKAVDAGATFLSETFIFTVAGGAILFETWRARRKEKNRRD

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	2 – 179	Optic atrophy 3 protein
Alternative sequence	52 – 179	VEMRTKMRIMGFRGTVIKPLNEEAAAELGAELLGEATIFIVGGGCLVLEYWRHQAQQRHKEEEQRAAWNALRDEVGHLALALEALQAQVQAAPPQGALEELRTELQEVRAQLCNPGRSASHAVPASKK -> LEMRTKMRIMGFNAAAIKPLNEGAAAELGAELLGEGIIFITACSCLMLEYWRHQLQQRRKEKERRVAREALRGEVGHLGLALEELQAQVQATSTQLALEELRAQLQEVRAHLCLRDPPPAPPVAPASEK. In isoform 2.

Literature citations
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;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H6K4: Variant p.Gly93Ser