A997S
(LQT-3/SIDS)
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| Shift in V1/2 of activation | Shift in V1/2 of inactivation | Kinetic of Inactivation | Recovery from Inactivation | I sus | Expression System | Reference |
|---|---|---|---|---|---|---|
| N.A. | N.A. |
WT |
N.A. |
WT |
HEK | Ackerman et al. 2001 |
| A997S tfast: 0.9ms tslow 3.2ms |
N.A. |
A997S
28% of peak current 2.2%±0.6% |
without beta1 | |||
| Slower |
Increased
|
N.S. : non different from WT ; N.A.: not available
COMMENTS ON IN VITRO
DATA
A997S mutation has been found in a case of sudden infant death syndrome (SIDS).
A significant sustained late inward current is the main feature of this mutation
occurring in the intracellular loop between second and third domains of the
SCN5A protein. This characteristic is in agreement with a LQTS phenotype. ECG
recordings of the SIDS victim was not available.