| Type | Description |
|---|---|
| Definition | sodium voltage-gated channel alpha subunit 4 |
| Date | Results | Publications |
|---|---|---|
| 2021-02-20 13:30:00 | Potential predictive value of SCN4A mutation status for immune checkpoint inhibitors in melanoma. | 32892029 |
| 2020-12-26 13:15:00 | [A novel mutation of SCN4A gene causes hypokalemic periodic paralysis in a Chinese family]. | 33333687 |
| 2020-11-21 13:12:00 | [Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita]. | 32594687 |
| 2020-04-25 12:24:00 | The p.V445M mutation in the Na(v)1.4 channel results in an increase of both sustained and resurgent Na(+) currents, which may contribute to hyperexcitability with repetitive firing and is likely to facilitate recurrent myotonia in Sodium Channel Myotonia patients. | 32276507 |
| 2020-02-15 13:23:00 | Four probands had a pathogenic variant in SCN4A. A diagnostic yield of 51% was achieved; of which 88% had pathogenic variants in CLCN1 and 12% in SCN4A. | 31544778 |
| Type | IDs |
|---|---|
| Synonymous | CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1 |
| Gene |
UniProtKB-ID:
SCN4A_HUMAN
UniprotKB:
P35499
UniParc:
UPI0000201254
EMBL:
L01963,
L01965,
L04217,
L01977,
L04223,
L04231,
L01971,
L04234,
L01964,
L04227,
L01974,
M81758,
L01981,
L01970,
S82622,
L04230,
L04221,
L04220,
L01980,
L04222,
L04226,
L01966,
L01969,
L01973,
L04236,
L01978,
L01982,
L04218,
L04219,
L04224,
L01976,
L04232,
L01967,
AC127029,
L04233,
L04235,
L04225,
L04228,
AY212253,
L01972,
L01962,
L01983,
L01979,
L01975,
L04229,
L04216,
L01968
Ensembl:
ENSG00000007314
KO:
hsa:6329
|
| Nucleutide sequences |
EMBL-CDS:
AAA75557.1,
AAO83647.1,
AAB59624.1,
AAB21450.2,
AAA60554.1
Ensembl_TRS:
ENST00000435607
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000396320
RefSeq:
NP_000325.4
|
| Others |
UniRef100:
UniRef100_P35499
UniRef90:
UniRef90_P35499
UniRef50:
UniRef50_P35499
UniGene:
Hs.46038
CCDS:
CCDS45761.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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