| 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