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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00555: Variant p.Glu992Val

Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Gene: CACNA1A
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Variant information Variant position: help 992
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Valine (V) at position 992 (E992V, p.Glu992Val).
Physico-chemical properties: help Change from medium size and acidic (E) to medium size and hydrophobic (V)
BLOSUM score: help -2
Polymorphism: help The poly-Gln region of CACNA1A is polymorphic: 6 to 17 repeats in the normal population, expanded to about 21 to 30 repeats in SCA6. Repeat expansion has been reported also in a EA2 family.
Other resources: help


Sequence information Variant position: help 992
Protein sequence length: help 2506
Location on the sequence: help KAERRARHREGSRPARGGEG E GEGPDGGERRRRHRHGAPAT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2506 Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Topological domain 714 – 1241 Cytoplasmic
Region 818 – 1220 Disordered



Literature citations
Genetic heterogeneity in Italian families with familial hemiplegic migraine.
Carrera P.; Piatti M.; Stenirri S.; Grimaldi L.M.; Marchioni E.; Curcio M.; Righetti P.G.; Ferrari M.; Gelfi C.;
Neurology 53:26-33(1999)
Cited for: VARIANT VAL-992; VARIANT FHM1 LEU-1455; Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4.
von Brevern M.; Ta N.; Shankar A.; Wiste A.; Siegel A.; Radtke A.; Sander T.; Escayg A.;
Headache 46:1136-1141(2006)
Cited for: VARIANTS ASP-917; VAL-992 AND SER-1104; The interplay of two single nucleotide polymorphisms in the CACNA1A gene may contribute to migraine susceptibility.
D'Onofrio M.; Ambrosini A.; Di Mambro A.; Arisi I.; Santorelli F.M.; Grieco G.S.; Nicoletti F.; Nappi G.; Pierelli F.; Schoenen J.; Buzzi M.G.;
Neurosci. Lett. 453:12-15(2009)
Cited for: VARIANTS ASP-917 AND VAL-992;
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.