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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60313: Variant p.Ala357Thr

Dynamin-like GTPase OPA1, mitochondrial
Gene: OPA1
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Variant information Variant position: help 357
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Threonine (T) at position 357 (A357T, p.Ala357Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Variant description: help In DOA+ and OPA1.
Other resources: help


Sequence information Variant position: help 357
Protein sequence length: help 960
Location on the sequence: help HVALFKDSSREFDLTKEEDL A ALRHEIELRMRKNVKEGCTV
Residue conservation: help 
Human                         HVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTV

Mouse                         HVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTV

Rat                           HVALFKDSSREFDLTKEEDLAALRHEIELRMRKNVKEGCTV

Chicken                       HVALFKDSSREFDLTKEEDLAALRNEIEIRMRNSVKEGCTV

Zebrafish                     HVAMFKDSSREFDLGKEEDLAALRHEIELRMRKSVKEGQTV
Sequence annotation in neighborhood: help
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
Domain 285 – 561 Dynamin-type G
Mutagenesis 359 – 359 L -> A. In mutant control 3; does not affect ability to mediate mitochondrial fusion.
Helix 353 – 370



Literature citations
OPA1 disease alleles causing dominant optic atrophy have defects in cardiolipin-stimulated GTP hydrolysis and membrane tubulation.
Ban T.; Heymann J.A.; Song Z.; Hinshaw J.E.; Chan D.C.;
Hum. Mol. Genet. 19:2113-2122(2010)
Cited for: FUNCTION; CATALYTIC ACTIVITY; DOMAIN; SUBUNIT; CHARACTERIZATION OF VARIANTS OPA1 GLU-300; VAL-439; HIS-445; ARG-545; LYS-728; ARG-785 AND PRO-939; CHARACTERIZATION OF VARIANTS VARIANT DOA+ THR-357; VAL-439; HIS-445; ARG-545 AND ASP-910; OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Amati-Bonneau P.; Valentino M.L.; Reynier P.; Gallardo M.E.; Bornstein B.; Boissiere A.; Campos Y.; Rivera H.; de la Aleja J.G.; Carroccia R.; Iommarini L.; Labauge P.; Figarella-Branger D.; Marcorelles P.; Furby A.; Beauvais K.; Letournel F.; Liguori R.; La Morgia C.; Montagna P.; Liguori M.; Zanna C.; Rugolo M.; Cossarizza A.; Wissinger B.; Verny C.; Schwarzenbacher R.; Martin M.A.; Arenas J.; Ayuso C.; Garesse R.; Lenaers G.; Bonneau D.; Carelli V.;
Brain 131:338-351(2008)
Cited for: VARIANTS DOA+ THR-357; VAL-439; HIS-445; ARG-545 AND ASP-910; FUNCTION; 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.