Table 2.

Summary of Possible HCM-Associated Mutations Involving Calcium-Handling Proteins

Mutation
Troponin C
A8V
L29Q
C84Y
Q122fs/30
E134D
D145E
Junctophilin 2
S101R
Y141H
S165F
(R436C)
(G505S)
Ryanodine Receptor 2
(T1107M)
Calsequestrin 2
(D63E)
Calreticulin 3
(R73Q)
K82R
Sorcin
(F112L)
Phospholamban
(C>T −235)
A>C −198
A>G −120
(T>C −114)
A>G −77
G>T −47*
C>G −42
L39X*

Parentheses indicate compound sarcomeric HCM-associated mutations identified in the proband, identification of the mutation in ostensibly healthy individuals, or unpublished.

^*, two mutation-positive probands identified.