Table 5.
Structural mapping of disease-related mutations identified in human Nav1.4
| Related proteins | Mutations | Diseases | Structural position | Map on hNav1.7 |
|---|---|---|---|---|
| hNav1.4 | Q270K | PMC | DI S5 | Q265 |
| hNav1.4 | I693T | PMC | DII S5 | I858 |
| hNav1.4 | T704M | PMC | DII S5 | T870 |
| hNav1.4 | S804F | PMC | DII - DIII | S970 |
| hNav1.4 | A1152D | PMC | DIII S4-S5 | A1313 |
| hNav1.4 | A1156T | PMC | DIII S4-S5 | A1317 |
| hNav1.4 | V1293I | PMC | DIII S6 | V1455 |
| hNav1.4 | G1306A | PMC | DIII S6 | G1468 |
| hNav1.4 | G1306E | PMC | DIII S6 | G1468 |
| hNav1.4 | G1306V | PMC | DIII S6 | G1468 |
| hNav1.4 | T1313M | PMC | DIII - DIV | T1475 |
| hNav1.4 | L1433R | PMC | DIV S3 | L1595 |
| hNav1.4 | L1436P | PMC | DIV S3 | L1598 |
| hNav1.4 | R1448C | PMC | DIV S4 | R1610 |
| hNav1.4 | R1448H | PMC | DIV S4 | R1610 |
| hNav1.4 | R1448L | PMC | DIV S4 | R1610 |
| hNav1.4 | G1456E | PMC | DIV S4 | G1618 |
| hNav1.4 | F1473S | PMC | DIV S5 | F1635 |
| hNav1.4 | V1589M | PMC | DIV S6 | V1751 |
| hNav1.4 | F1705I | PMC | C-terminus | F1867 |
| hNav1.4 | R222W | HOKPP2 | DI S4 | E217 |
| hNav1.4 | R669H | HOKPP2 | DII S4 | R835 |
| hNav1.4 | R672C | HOKPP2 | DII S4 | R838 |
| hNav1.4 | R672G | HOKPP2 | DII S4 | R838 |
| hNav1.4 | R672H | HOKPP2 | DII S4 | R838 |
| hNav1.4 | R672S | HOKPP2 | DII S4 | R838 |
| hNav1.4 | R1129Q | HOKPP2 | DIII S4 | R1290 |
| hNav1.4 | R1132Q | HOKPP2 | DIII S4 | R1293 |
| hNav1.4 | R1135C | HOKPP2 | DIII S4 | R1296 |
| hNav1.4 | R1135H | HOKPP2 | DIII S4 | R1299 |
| hNav1.4 | P1158S | HOKPP2 | DIII S4-S5 | P1319 |
| hNav1.4 | T704M | HYPP | DII S5 | T870 |
| hNav1.4 | V781I | HYPP | DII S6 | V947 |
| hNav1.4 | A1156T | HYPP | DIII S4-S5 | A1317 |
| hNav1.4 | L1433R | HYPP | DIV S3 | L1595 |
| hNav1.4 | M1592V | HYPP | DIV S6 | M1754 |
| hNav1.4 | R675G | NKPP | DII S4 | R841 |
| hNav1.4 | R675Q | NKPP | DII S4 | R841 |
| hNav1.4 | R675W | NKPP | DII S4 | R841 |
| hNav1.4 | V781I | NKPP | DII S6 | V947 |
| hNav1.4 | R1129Q | NKPP | DIII S4 | R1290 |
| hNav1.4 | M1592V | NKPP | DIV S6 | M1754 |
| hNav1.4 | I141V | MYOSCN4A | DI S1 | I136 |
| hNav1.4 | R225W | MYOSCN4A | DI S4 | R220 |
| hNav1.4 | N440K | MYOSCN4A | DI S6 | N395 |
| hNav1.4 | V445M | MYOSCN4A | DI - DII | V440 |
| hNav1.4 | E452K | MYOSCN4A | DI - DII | E447 |
| hNav1.4 | I588V | MYOSCN4A | DII S1 | I754 |
| hNav1.4 | F671S | MYOSCN4A | DII S4 | F837 |
| hNav1.4 | A715T | MYOSCN4A | DII S5 | A881 |
| hNav1.4 | S804N | MYOSCN4A | DII - DIII | S970 |
| hNav1.4 | A1156T | MYOSCN4A | DIII S4-S5 | A1317 |
| hNav1.4 | P1158L | MYOSCN4A | DIII S4-S5 | P1319 |
| hNav1.4 | I1160V | MYOSCN4A | DIII S4-S5 | I1321 |
| hNav1.4 | N1297K | MYOSCN4A | DIII S6 | I1457 |
| hNav1.4 | G1306E | MYOSCN4A | DIII S6 | G1468 |
| hNav1.4 | G1306V | MYOSCN4A | DIII S6 | G1468 |
| hNav1.4 | I1310N | MYOSCN4A | DIII - DIV | I1472 |
| hNav1.4 | M1476I | MYOSCN4A | DIV S5 | M1638 |
| hNav1.4 | A1481D | MYOSCN4A | DIV S5 | A1643 |
| hNav1.4 | Q1633E | MYOSCN4A | C-terminus | Q1795 |
| hNav1.4 | R104H | CMS16 | N-terminus | R99 |
| hNav1.4 | M203K | CMS16 | DI S3 | F198 |
| hNav1.4 | R225W | CMS16 | DI S4 | R220 |
| hNav1.4 | S246L | CMS16 | DI S5 | S241 |
| hNav1.4 | P382T | CMS16 | DI S5-S6 | P337 |
| hNav1.4 | D1069N | CMS16 | DIII S2 | D1230 |
| hNav1.4 | R1135C | CMS16 | DIII S4-S5 | R1299 |
| hNav1.4 | C1209F | CMS16 | DIII S5-S6 | C1370 |
| hNav1.4 | V1442E | CMS16 | DIV S3-S4 | V1604 |
| hNav1.4 | R1454W | CMS16 | DIV S4 | R1616 |
| hNav1.4 | R1457H | CMS16 | DIV S4 | R1619 |
PMC: Paramyotonia congenita of von Eulenburg; HOKPP2: Periodic paralysis hypokalemic 2; HYPP: Periodic paralysis hyperkalemic; NKPP: Periodic paralysis normokalemic; MYOSCN4A: Myotonia SCN4A-related; CMS16: Myasthenic syndrome, congenital, 16