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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95180: Variant p.Pro2083Leu

Voltage-dependent T-type calcium channel subunit alpha-1H
Gene: CACNA1H
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Variant information Variant position: help 2083
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Leucine (L) at position 2083 (P2083L, p.Pro2083Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In HALD4; changed calcium channel activity.
Other resources: help


Sequence information Variant position: help 2083
Protein sequence length: help 2353
Location on the sequence: help RPASVRTRKHTFGQRCVSSR P AAPGGEEAEASDPADEEVSH
Residue conservation: help 
Human                         RPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEEVSH

Mouse                         RPASVRTRKHTFGQHCISSRPPTLGGDDAEAADPADEEVSH

Rat                           RPASVRTRKHTFGQRCISSRPPTLGGDEAEAADPADEEVSH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2353 Voltage-dependent T-type calcium channel subunit alpha-1H
Topological domain 1864 – 2353 Cytoplasmic
Region 2021 – 2255 Disordered



Literature citations
CACNA1H mutations are associated with different forms of primary aldosteronism.
Daniil G.; Fernandes-Rosa F.L.; Chemin J.; Blesneac I.; Beltrand J.; Polak M.; Jeunemaitre X.; Boulkroun S.; Amar L.; Strom T.M.; Lory P.; Zennaro M.C.;
EBioMedicine 13:225-236(2016)
Cited for: VARIANTS HALD4 LEU-196; ILE-1549 AND LEU-2083; VARIANT GLU-1951; CHARACTERIZATION OF VARIANTS HALD4 LEU-196; ILE-1549 AND LEU-2083; CHARACTERIZATION OF VARIANT GLU-1951; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; TRANSPORTER ACTIVITY;
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.