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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00555: Variant p.Glu1014Lys

Voltage-dependent P/Q-type calcium channel subunit alpha-1A
Gene: CACNA1A
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Variant information Variant position: help 1014
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Lysine (K) at position 1014 (E1014K, p.Glu1014Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
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 1014
Protein sequence length: help 2506
Location on the sequence: help EGPDGGERRRRHRHGAPATY E GDARREDKERRHRRRKENQG
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
No reference for the current variant in UniProtKB/Swiss-Prot.
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.