CACNA1c

 

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OMIM:
Gene:
Protein:

 

Variants in this table: 18


Nucleotide
Change
Amino Acid Change
Mutation
Type
Localization
Phenotype
Functional Effect
Notes
References
109 G>A G37R sSNP N-term (exon 2) -     Burashnikov et al 2010
116 C>T A39V Missense N-term (exon 2) Brugada/short QT Loss of function found in association with SNP KCNH2 K897T Burashnikov et al 2010 ; Antzelevitch et al. 2007
- G402S Missense DI/S6 (exon 8) Timothy (LQT8) Gain of function   Splawski et al 2005
1216 G>A G406R Missense
DI/S6 (exon 8A) Timothy (LQT8) Gain of function   Splawski et al 2004; Antzelevitch et al. 2007
1468 G>A G490R Missense DI/DII (exon 10) Brugada/short QT Loss of function found in association with SNP SCN5A-H558R and SCN5A-S1103Y Burashnikov et al 2010
2449 C>T P817S cSNP DI/DII (exon 17) -     Burashnikov et al 2010
2548-
550del GAG
E850 del Deletion DII/DIII (exon 19) Early repolarization     Burashnikov et al 2010
3343 G>A E1115K Missense DIII-S5/S6 (exon 43) Brugada - found in association with SNP KCNH2 K897T Burashnikov et al 2010
5150 C>G .A1717G cSNP C-term (exon 42) -     Burashnikov et al 2010
5360 C>T T1787M cSNP C-term (exon 42) -     Burashnikov et al 2010
- P1820L cSNP C-term       Antzelevitch et al. 2007
- V1821M cSNP C-term       Antzelevitch et al. 2007
5485_5499
dup15
E1829_Q1833
dup
Duplication C-term (exon 44) Brugada     Burashnikov et al 2010
5510 G>A C1837Y Missense C-term (exon 42/43) C-term   Found in association with SNP SCN5A P1090L Burashnikov et al 2010
5639 G>A R1880Q Missense C-term (exon 44) Brugada   found in association with SNP KCNH2 K897T and CACNA1c R1973Q Burashnikov et al 2010
5918 G>A R1973Q cSNP C-term (exon 46) -     Burashnikov et al 2010
6040 G>A V2014I Missense C-term (exon 46) Brugada   found in association with SNP CACNB2B D601E and SCN5A H558R Burashnikov et al 2010
6388 G>A D2130N Missense C-term (exon 47) Brugada   found in association with SNP KCNE2 T10M
and CACNA1C A1717G
Burashnikov et al 2010
               

Reference sequence in Burashnikov et al: NM_000219, NM_201590, NM_000722.2

 

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