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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13936: Variant p.Arg860Gly

Voltage-dependent L-type calcium channel subunit alpha-1C
Gene: CACNA1C
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Variant information Variant position: help 860
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glycine (G) at position 860 (R860G, p.Arg860Gly).
Physico-chemical properties: help Change from large size and basic (R) to glycine (G)
BLOSUM score: help -2
Variant description: help In LQT8; gain-of-function effect on channel activity.


Sequence information Variant position: help 860
Protein sequence length: help 2221
Location on the sequence: help PETTGEEDEEEPEMPVGPRP R PLSELHLKEKAVPMPEASAF
Residue conservation: help 
Human                         PETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAF

Mouse                         PDTAGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAF

Rat                           PDTAGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAF

Rabbit                        PETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2221 Voltage-dependent L-type calcium channel subunit alpha-1C
Topological domain 746 – 900 Cytoplasmic
Region 764 – 861 Disordered
Region 829 – 876 Interaction with STAC2



Literature citations
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
Wemhoener K.; Friedrich C.; Stallmeyer B.; Coffey A.J.; Grace A.; Zumhagen S.; Seebohm G.; Ortiz-Bonnin B.; Rinne S.; Sachse F.B.; Schulze-Bahr E.; Decher N.;
J. Mol. Cell. Cardiol. 80:186-195(2015)
Cited for: VARIANTS LQT8 THR-28; LYS-477; GLY-860; THR-1186; VAL-1186; THR-1365; MET-1523; LYS-1544; ASN-1787; ILE-1800; LYS-1948; MET-1953; ASN-2081; ILE-2097 AND GLY-2122; CHARACTERIZATION OF VARIANTS LQT8 THR-28; GLY-860; THR-1186; VAL-1186; MET-1523 AND LYS-1544; VARIANTS ARG-37; THR-304; SER-817; ILE-1755; GLY-1765; MET-1835; ARG-1843; CYS-1972; GLN-2056 AND SER-2174; FUNCTION; 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.