Table 6.
Structural mapping of disease-related mutations identified in human Nav1.5
| Related proteins | Mutations | Diseases | Structural position | Map on hNav1.7 |
|---|---|---|---|---|
| hNav1.5 | E161K | PFHB1A | DI S2 | E156 |
| hNav1.5 | R225W | PFHB1A | DI S4 | R220 |
| hNav1.5 | G298S | PFHB1A | DI S4-S5 | – |
| hNav1.5 | T512I | PFHB1A | DI - DII | V518 |
| hNav1.5 | G514C | PFHB1A | DI - DII | G520 |
| hNav1.5 | G752R | PFHB1A | DII S2-S3 | G779 |
| hNav1.5 | R1232W | PFHB1A | DIII S1-S2 | K1219 |
| hNav1.5 | D1275N | PFHB1A | DIII S3 | D1262 |
| hNav1.5 | D1595N | PFHB1A | DIII D3-S4 | D1582 |
| hNav1.5 | T1620K | PFHB1A | DIV S3-S4 | T1607 |
| hNav1.5 | G9V | LQT3 | N-terminus | G8 |
| hNav1.5 | R18Q | LQT3 | N-terminus | K17 |
| hNav1.5 | R27H | LQT3 | N-terminus | R26 |
| hNav1.5 | E30G | LQT3 | N-terminus | E29 |
| hNav1.5 | R43Q | LQT3 | N-terminus | K40 |
| hNav1.5 | E48K | LQT3 | N-terminus | D43 |
| hNav1.5 | P52S | LQT3 | N-terminus | P47 |
| hNav1.5 | R53Q | LQT3 | N-terminus | K48 |
| hNav1.5 | R104G | LQT3 | N-terminus | R99 |
| hNav1.5 | S115G | LQT3 | N-terminus | S110 |
| hNav1.5 | V125L | LQT3 | N-terminus | I125 |
| hNav1.5 | L212P | LQT3 | DI S3-S4 | L207 |
| hNav1.5 | R222Q | LQT3 | DI S4 | R217 |
| hNav1.5 | R225Q | LQT3 | DI S4 | R220 |
| hNav1.5 | R225W | LQT3 | DI S4 | R220 |
| hNav1.5 | V240M | LQT3 | DI S5 | V235 |
| hNav1.5 | Q245K | LQT3 | DI S5 | Q240 |
| hNav1.5 | V247L | LQT3 | DI S5 | L242 |
| hNav1.5 | N275K | LQT3 | DI S5-S6 | N270 |
| hNav1.5 | G289S | LQT3 | DI S5-S6 | E284 |
| hNav1.5 | R340W | LQT3 | DI S5-S6 | T329 |
| hNav1.5 | R367C | LQT3 | DI S5-S6 | R356 |
| hNav1.5 | T370M | LQT3 | DI S5-S6 | T359 |
| hNav1.5 | I397T | LQT3 | DI S6 | I386 |
| hNav1.5 | L404Q | LQT3 | DI S6 | L393 |
| hNav1.5 | N406K | LQT3 | DI S6 | N395 |
| hNav1.5 | L409V | LQT3 | DI S6 | L398 |
| hNav1.5 | V411M | LQT3 | DI S6 | V400 |
| hNav1.5 | A413E | LQT3 | DI S6 | A402 |
| hNav1.5 | A413T | LQT3 | DI S6 | A402 |
| hNav1.5 | E462A | LQT3 | DI - DII | E464 |
| hNav1.5 | E462K | LQT3 | DI - DII | E464 |
| hNav1.5 | F530V | LQT3 | DI - DII | F555 |
| hNav1.5 | R535Q | LQT3 | DI - DII | R562 |
| hNav1.5 | R569W | LQT3 | DI - DII | E596 |
| hNav1.5 | S571I | LQT3 | DI - DII | R598 |
| hNav1.5 | A572D | LQT3 | DI - DII | S599 |
| hNav1.5 | A572S | LQT3 | DI - DII | S599 |
| hNav1.5 | A572V | LQT3 | DI - DII | S599 |
| hNav1.5 | Q573E | LQT3 | DI - DII | S600 |
| hNav1.5 | G579R | LQT3 | DI - DII | S606 |
| hNav1.5 | G615E | LQT3 | DI - DII | N641 |
| hNav1.5 | L619F | LQT3 | DI - DII | L615 |
| hNav1.5 | P637L | LQT3 | DI - DII | – |
| hNav1.5 | G639R | LQT3 | DI - DII | K666 |
| hNav1.5 | P648L | LQT3 | DI - DII | L675 |
| hNav1.5 | E654K | LQT3 | DI - DII | N681 |
| hNav1.5 | L673P | LQT3 | DI - DII | V700 |
| hNav1.5 | R680H | LQT3 | DI - DII | Q708 |
| hNav1.5 | R689C | LQT3 | DI - DII | R716 |
| hNav1.5 | R689H | LQT3 | DI - DII | R716 |
| hNav1.5 | P701L | LQT3 | DI - DII | P728 |
| hNav1.5 | T731I | LQT3 | DII S1 | T758 |
| hNav1.5 | Q750R | LQT3 | DII S2 | A777 |
| hNav1.5 | D772N | LQT3 | DII S2-S3 | D799 |
| hNav1.5 | F816Y | LQT3 | DII S4 | F843 |
| hNav1.5 | I848F | LQT3 | DII S5 | I875 |
| hNav1.5 | S941N | LQT3 | DII - DIII | S970 |
| hNav1.5 | Q960K | LQT3 | DII - DIII | Q989 |
| hNav1.5 | R965L | LQT3 | DII - DIII | R994 |
| hNav1.5 | R971C | LQT3 | DII - DIII | N1000 |
| hNav1.5 | C981F | LQT3 | DII - DIII | – |
| hNav1.5 | A997S | LQT3 | DII - DIII | E1023 |
| hNav1.5 | C1004R | LQT3 | DII - DIII | Y1037 |
| hNav1.5 | E1053K | LQT3 | DII - DIII | E1095 |
| hNav1.5 | T1069M | LQT3 | DII - DIII | D1111 |
| hNav1.5 | A1100V | LQT3 | DII - DIII | – |
| hNav1.5 | D1114N | LQT3 | DII - DIII | – |
| hNav1.5 | D1166N | LQT3 | DII - DIII | A1153 |
| hNav1.5 | R1193Q | LQT3 | DII - DIII | N1180 |
| hNav1.5 | Y1199S | LQT3 | DII - DIII | Y1186 |
| hNav1.5 | E1225K | LQT3 | DIII S1-S2 | E1212 |
| hNav1.5 | E1231K | LQT3 | DIII S1-S2 | R1218 |
| hNav1.5 | F1250L | LQT3 | DIII S2 | F1237 |
| hNav1.5 | L1283M | LQT3 | DIII S3 | L1270 |
| hNav1.5 | E1295K | LQT3 | DIII S3-S4 | D1282 |
| hNav1.5 | T1304M | LQT3 | DIII S4 | T1291 |
| hNav1.5 | N1325S | LQT3 | DIII S4-S5 | N1312 |
| hNav1.5 | A1326S | LQT3 | DIII S4-S5 | A1313 |
| hNav1.5 | A1330P | LQT3 | DIII S4-S5 | A1317 |
| hNav1.5 | A1330T | LQT3 | DIII S4-S5 | A1317 |
| hNav1.5 | P1332L | LQT3 | DIII S4-S5 | P1319 |
| hNav1.5 | S1333Y | LQT3 | DIII S4-S5 | S1320 |
| hNav1.5 | I1334V | LQT3 | DIII S4-S5 | I1321 |
| hNav1.5 | L1338V | LQT3 | DIII S5 | L1325 |
| hNav1.5 | R1432S | LQT3 | DIII S5-S6 | V1419 |
| hNav1.5 | S1458Y | LQT3 | DIII S6 | S1445 |
| hNav1.5 | N1472S | LQT3 | DIII S6 | N1459 |
| hNav1.5 | F1473C | LQT3 | DIII S6 | F1460 |
| hNav1.5 | G1481E | LQT3 | DIII - DIV | G1468 |
| hNav1.5 | F1486L | LQT3 | DIII - DIV | F1473 |
| hNav1.5 | M1487L | LQT3 | DIII - DIV | M1474 |
| hNav1.5 | T1488R | LQT3 | DIII - DIV | T1475 |
| hNav1.5 | E1489D | LQT3 | DIII - DIV | E1476 |
| hNav1.5 | K1493R | LQT3 | DIII - DIV | K1480 |
| hNav1.5 | Y1495S | LQT3 | DIII - DIV | Y1482 |
| hNav1.5 | M1498V | LQT3 | DIII - DIV | M1485 |
| hNav1.5 | L1501V | LQT3 | DIII - DIV | L1488 |
| hNav1.5 | K1505N | LQT3 | DIII - DIV | K1492 |
| hNav1.5 | V1532I | LQT3 | DIV S1 | I1519 |
| hNav1.5 | L1560F | LQT3 | DIV S2 | L1547 |
| hNav1.5 | I1593M | LQT3 | DIV S3 | I1580 |
| hNav1.5 | F1594S | LQT3 | DIV S3 | F1581 |
| hNav1.5 | D1595N | LQT3 | DIV S3 | D1582 |
| hNav1.5 | F1596I | LQT3 | DIV S3 | F1583 |
| hNav1.5 | S1609W | LQT3 | DIV S3 | A1596 |
| hNav1.5 | T1620K | LQT3 | DIV S3-S4 | T1607 |
| hNav1.5 | R1623L | LQT3 | DIV S4 | R1610 |
| hNav1.5 | R1623Q | LQT3 | DIV S4 | R1610 |
| hNav1.5 | R1626H | LQT3 | DIV S4 | R1613 |
| hNav1.5 | R1626P | LQT3 | DIV S4 | R1613 |
| hNav1.5 | R1644C | LQT3 | DIV S5 | R1631 |
| hNav1.5 | R1644H | LQT3 | DIV S5 | R1631 |
| hNav1.5 | T1645M | LQT3 | DIV S5 | T1632 |
| hNav1.5 | L1650F | LQT3 | DIV S5 | L1637 |
| hNav1.5 | M1652R | LQT3 | DIV S5 | M1639 |
| hNav1.5 | M1652T | LQT3 | DIV S5 | M1639 |
| hNav1.5 | I1660V | LQT3 | DIV S5 | I1647 |
| hNav1.5 | V1667I | LQT3 | DIV S5 | V1654 |
| hNav1.5 | T1723N | LQT3 | DIV S5-S6 | S1710 |
| hNav1.5 | R1739W | LQT3 | DIV S5-S6 | E1727 |
| hNav1.5 | L1761F | LQT3 | DIV S6 | L1749 |
| hNav1.5 | L1761H | LQT3 | DIV S6 | L1749 |
| hNav1.5 | V1763M | LQT3 | DIV S6 | V1751 |
| hNav1.5 | M1766L | LQT3 | DIV S6 | M1754 |
| hNav1.5 | Y1767C | LQT3 | DIV S6 | Y1755 |
| hNav1.5 | I1768V | LQT3 | DIV S6 | I1756 |
| hNav1.5 | V1777M | LQT3 | C-terminus | V1765 |
| hNav1.5 | T1779M | LQT3 | C-terminus | T1767 |
| hNav1.5 | E1784K | LQT3 | C-terminus | E1772 |
| hNav1.5 | D1790G | LQT3 | C-terminus | D1778 |
| hNav1.5 | Y1795C | LQT3 | C-terminus | Y1783 |
| hNav1.5 | Y1795YD | LQT3 | C-terminus | Y1783 |
| hNav1.5 | D1819N | LQT3 | C-terminus | A1807 |
| hNav1.5 | L1825P | LQT3 | C-terminus | L1813 |
| hNav1.5 | R1826H | LQT3 | C-terminus | L1814 |
| hNav1.5 | D1839G | LQT3 | C-terminus | D1827 |
| hNav1.5 | R1897W | LQT3 | C-terminus | K1885 |
| hNav1.5 | E1901Q | LQT3 | C-terminus | E1889 |
| hNav1.5 | S1904L | LQT3 | C-terminus | S1892 |
| hNav1.5 | Q1909R | LQT3 | C-terminus | Q1897 |
| hNav1.5 | R1913H | LQT3 | C-terminus | R1901 |
| hNav1.5 | A1949S | LQT3 | C-terminus | F1934 |
| hNav1.5 | V1951L | LQT3 | C-terminus | N1936 |
| hNav1.5 | Y1977N | LQT3 | C-terminus | Y1958 |
| hNav1.5 | F2004L | LQT3 | C-terminus | D1982 |
| hNav1.5 | F2004V | LQT3 | C-terminus | D1982 |
| hNav1.5 | R2012C | LQT3 | C-terminus | – |
| hNav1.5 | R18Q | BRGDA1 | N-terminus | K17 |
| hNav1.5 | R27H | BRGDA1 | N-terminus | R26 |
| hNav1.5 | N70K | BRGDA1 | N-terminus | D65 |
| hNav1.5 | D84N | BRGDA1 | N-terminus | D79 |
| hNav1.5 | F93S | BRGDA1 | N-terminus | F88 |
| hNav1.5 | I94S | BRGDA1 | N-terminus | I89 |
| hNav1.5 | V95I | BRGDA1 | N-terminus | V90 |
| hNav1.5 | R104Q | BRGDA1 | N-terminus | R99 |
| hNav1.5 | R104W | BRGDA1 | N-terminus | R99 |
| hNav1.5 | N109K | BRGDA1 | N-terminus | P104 |
| hNav1.5 | R121Q | BRGDA1 | N-terminus | R116 |
| hNav1.5 | R121W | BRGDA1 | N-terminus | R116 |
| hNav1.5 | K126E | BRGDA1 | N-terminus | K121 |
| hNav1.5 | L136P | BRGDA1 | DI S1 | L131 |
| hNav1.5 | V146M | BRGDA1 | DI S1 | I141 |
| hNav1.5 | E161K | BRGDA1 | DI S2 | E156 |
| hNav1.5 | E161Q | BRGDA1 | DI S2 | E156 |
| hNav1.5 | K175N | BRGDA1 | DI S2 | K170 |
| hNav1.5 | A178G | BRGDA1 | DI S2-S3 | A173 |
| hNav1.5 | C182R | BRGDA1 | DI S2-S3 | C177 |
| hNav1.5 | A185V | BRGDA1 | DI S2-S3 | E180 |
| hNav1.5 | T187I | BRGDA1 | DI S3 | T182 |
| hNav1.5 | A204V | BRGDA1 | DI S3 | A199 |
| hNav1.5 | L212Q | BRGDA1 | DI S3-S4 | L207 |
| hNav1.5 | T220I | BRGDA1 | DI S4 | T215 |
| hNav1.5 | R222Q | BRGDA1 | DI S4 | R217 |
| hNav1.5 | V223L | BRGDA1 | DI S4 | V218 |
| hNav1.5 | R225W | BRGDA1 | DI S4 | R220 |
| hNav1.5 | A226V | BRGDA1 | DI S4 | A221 |
| hNav1.5 | I230V | BRGDA1 | DI S4 | T225 |
| hNav1.5 | V232I | BRGDA1 | DI S4 | V227 |
| hNav1.5 | V240M | BRGDA1 | DI S5 | V235 |
| hNav1.5 | Q270K | BRGDA1 | DI S5 | Q265 |
| hNav1.5 | L276Q | BRGDA1 | DI S5-S6 | L271 |
| hNav1.5 | H278D | BRGDA1 | DI S5-S6 | H273 |
| hNav1.5 | R282C | BRGDA1 | DI S5-S6 | R277 |
| hNav1.5 | R282H | BRGDA1 | DI S5-S6 | R277 |
| hNav1.5 | V294M | BRGDA1 | DI S5-S6 | I289 |
| hNav1.5 | V300I | BRGDA1 | DI S5-S6 | – |
| hNav1.5 | L315P | BRGDA1 | DI S5-S6 | Y304 |
| hNav1.5 | G319S | BRGDA1 | DI S5-S6 | G308 |
| hNav1.5 | T320N | BRGDA1 | DI S5-S6 | S319 |
| hNav1.5 | L325R | BRGDA1 | DI S5-S6 | L314 |
| hNav1.5 | P336L | BRGDA1 | DI S5-S6 | P325 |
| hNav1.5 | G351D | BRGDA1 | DI S5-S6 | G340 |
| hNav1.5 | G351V | BRGDA1 | DI S5-S6 | G340 |
| hNav1.5 | T353I | BRGDA1 | DI S5-S6 | T342 |
| hNav1.5 | D356N | BRGDA1 | DI S5-S6 | D345 |
| hNav1.5 | R367C | BRGDA1 | DI S5-S6 | R356 |
| hNav1.5 | R367H | BRGDA1 | DI S5-S6 | R356 |
| hNav1.5 | R367L | BRGDA1 | DI S5-S6 | R356 |
| hNav1.5 | M369K | BRGDA1 | DI S5-S6 | M358 |
| hNav1.5 | W374G | BRGDA1 | DI S5-S6 | W363 |
| hNav1.5 | R376H | BRGDA1 | DI S5-S6 | N365 |
| hNav1.5 | G386E | BRGDA1 | DI S5-S6 | G375 |
| hNav1.5 | G386R | BRGDA1 | DI S5-S6 | G375 |
| hNav1.5 | V396A | BRGDA1 | DI S6 | V385 |
| hNav1.5 | V396L | BRGDA1 | DI S6 | V385 |
| hNav1.5 | N406S | BRGDA1 | DI S6 | N395 |
| hNav1.5 | E439K | BRGDA1 | DI - DII | D428 |
| hNav1.5 | D501G | BRGDA1 | DI - DII | D507 |
| hNav1.5 | G514C | BRGDA1 | DI - DII | G520 |
| hNav1.5 | R526H | BRGDA1 | DI - DII | R540 |
| hNav1.5 | F532C | BRGDA1 | DI - DII | A546 |
| hNav1.5 | F543L | BRGDA1 | DI - DII | F570 |
| hNav1.5 | G552R | BRGDA1 | DI - DII | G579 |
| hNav1.5 | L567Q | BRGDA1 | DI - DII | P594 |
| hNav1.5 | G615E | BRGDA1 | DI - DII | N641 |
| hNav1.5 | L619F | BRGDA1 | DI - DII | L615 |
| hNav1.5 | R620C | BRGDA1 | DI - DII | E647 |
| hNav1.5 | T632M | BRGDA1 | DI - DII | G659 |
| hNav1.5 | P640A | BRGDA1 | DI - DII | K667 |
| hNav1.5 | A647D | BRGDA1 | DI - DII | L674 |
| hNav1.5 | P648L | BRGDA1 | DI - DII | L675 |
| hNav1.5 | R661W | BRGDA1 | DI - DII | R688 |
| hNav1.5 | H681P | BRGDA1 | DI - DII | Q708 |
| hNav1.5 | C683G | BRGDA1 | DI - DII | C710 |
| hNav1.5 | P701L | BRGDA1 | DI - DII | P728 |
| hNav1.5 | P717L | BRGDA1 | DI - DII | P744 |
| hNav1.5 | A735E | BRGDA1 | DII S1-S2 | A762 |
| hNav1.5 | A735V | BRGDA1 | DII S1-S2 | A762 |
| hNav1.5 | E746K | BRGDA1 | DII S2 | K773 |
| hNav1.5 | G752R | BRGDA1 | DII S2 | G779 |
| hNav1.5 | G758E | BRGDA1 | DII S2 | G785 |
| hNav1.5 | M764R | BRGDA1 | DII S2 | M791 |
| hNav1.5 | D772N | BRGDA1 | DII S2-S3 | D799 |
| hNav1.5 | P773S | BRGDA1 | DII S2-S3 | P800 |
| hNav1.5 | V789I | BRGDA1 | DII S3 | V816 |
| hNav1.5 | R808P | BRGDA1 | DII S4 | R835 |
| hNav1.5 | R814Q | BRGDA1 | DII S4 | R841 |
| hNav1.5 | L839P | BRGDA1 | DII S6 | L866 |
| hNav1.5 | F851L | BRGDA1 | DII S6 | F878 |
| hNav1.5 | E867Q | BRGDA1 | DII S5-S6 | E894 |
| hNav1.5 | R878C | BRGDA1 | DII S5-S6 | R907 |
| hNav1.5 | R878H | BRGDA1 | DII S5-S6 | R907 |
| hNav1.5 | H886P | BRGDA1 | DII S5-S6 | H915 |
| hNav1.5 | F892I | BRGDA1 | DII S5-S6 | F921 |
| hNav1.5 | R893C | BRGDA1 | DII S5-S6 | R922 |
| hNav1.5 | R893H | BRGDA1 | DII S5-S6 | R922 |
| hNav1.5 | C896S | BRGDA1 | DII S5-S6 | C925 |
| hNav1.5 | E901K | BRGDA1 | DII S5-S6 | E930 |
| hNav1.5 | S910L | BRGDA1 | DII S5-S6 | A939 |
| hNav1.5 | C915R | BRGDA1 | DII S5-S6 | C944 |
| hNav1.5 | L917R | BRGDA1 | DII S6 | I946 |
| hNav1.5 | N927S | BRGDA1 | DII S6 | N956 |
| hNav1.5 | L928P | BRGDA1 | DII S6 | L957 |
| hNav1.5 | L935P | BRGDA1 | DII S6 | L964 |
| hNav1.5 | R965C | BRGDA1 | DII - DIII | R994 |
| hNav1.5 | R965H | BRGDA1 | DII - DIII | R994 |
| hNav1.5 | A997T | BRGDA1 | DII - DIII | Q1026 |
| hNav1.5 | R1023H | BRGDA1 | DII - DIII | H1050 |
| hNav1.5 | E1053K | BRGDA1 | DII - DIII | E1095 |
| hNav1.5 | D1055G | BRGDA1 | DII - DIII | D1097 |
| hNav1.5 | S1079Y | BRGDA1 | DII - DIII | – |
| hNav1.5 | A1113V | BRGDA1 | DII - DIII | – |
| hNav1.5 | S1140T | BRGDA1 | DII - DIII | S1128 |
| hNav1.5 | R1193Q | BRGDA1 | DII - DIII | N1180 |
| hNav1.5 | S1219N | BRGDA1 | DIII S1 | S1206 |
| hNav1.5 | E1225K | BRGDA1 | DIII S1-S2 | E1212 |
| hNav1.5 | Y1228H | BRGDA1 | DIII S1-S2 | Y1215 |
| hNav1.5 | R1232Q | BRGDA1 | DIII S1-S2 | K1219 |
| hNav1.5 | R1232W | BRGDA1 | DIII S1-S2 | K1219 |
| hNav1.5 | K1236N | BRGDA1 | DIII S2 | K1223 |
| hNav1.5 | L1339P | BRGDA1 | DIII S2 | L1226 |
| hNav1.5 | E1240Q | BRGDA1 | DIII S2 | E1227 |
| hNav1.5 | D1243N | BRGDA1 | DIII S2 | D1230 |
| hNav1.5 | V1249D | BRGDA1 | DIII S2 | I1236 |
| hNav1.5 | E1253G | BRGDA1 | DIII S2 | E1240 |
| hNav1.5 | G1262S | BRGDA1 | DIII S2-S3 | G1249 |
| hNav1.5 | W1271C | BRGDA1 | DIII S3 | W1258 |
| hNav1.5 | D1275N | BRGDA1 | DIII S3 | D1262 |
| hNav1.5 | A1288G | BRGDA1 | DIII S3-S4 | A1275 |
| hNav1.5 | F1293S | BRGDA1 | DIII S3-S4 | Y1280 |
| hNav1.5 | L1311P | BRGDA1 | DIII S4 | L1298 |
| hNav1.5 | G1319V | BRGDA1 | DIII S4-S5 | G1306 |
| hNav1.5 | V1323G | BRGDA1 | DIII S4-S5 | V1310 |
| hNav1.5 | P1332L | BRGDA1 | DIII S4-S5 | P1319 |
| hNav1.5 | F1344L | BRGDA1 | DIII S5 | F1331 |
| hNav1.5 | F1344S | BRGDA1 | DIII S5 | F1331 |
| hNav1.5 | L1346I | BRGDA1 | DIII S5 | L1333 |
| hNav1.5 | L1346P | BRGDA1 | DIII S5 | L1333 |
| hNav1.5 | M1351R | BRGDA1 | DIII S5 | M1338 |
| hNav1.5 | V1353M | BRGDA1 | DIII S5 | V1340 |
| hNav1.5 | G1358W | BRGDA1 | DIII S5-S6 | G1345 |
| hNav1.5 | K1359N | BRGDA1 | DIII S5-S6 | K1346 |
| hNav1.5 | F1360C | BRGDA1 | DIII S5-S6 | F1347 |
| hNav1.5 | C1363Y | BRGDA1 | DIII S5-S6 | C1350 |
| hNav1.5 | S1382I | BRGDA1 | DIII S5-S6 | E1369 |
| hNav1.5 | V1405L | BRGDA1 | DIII S5-S6 | V1392 |
| hNav1.5 | V1405M | BRGDA1 | DIII S5-S6 | V1392 |
| hNav1.5 | G1406E | BRGDA1 | DIII S5-S6 | G1393 |
| hNav1.5 | G1406R | BRGDA1 | DIII S5-S6 | G1393 |
| hNav1.5 | G1408R | BRGDA1 | DIII S5-S6 | G1395 |
| hNav1.5 | Y1409C | BRGDA1 | DIII S5-S6 | Y1396 |
| hNav1.5 | L1412F | BRGDA1 | DIII S5-S6 | L1399 |
| hNav1.5 | K1419E | BRGDA1 | DIII S5-S6 | K1406 |
| hNav1.5 | G1420R | BRGDA1 | DIII S5-S6 | G1407 |
| hNav1.5 | A1427S | BRGDA1 | DIII S5-S6 | A1414 |
| hNav1.5 | A1428V | BRGDA1 | DIII S5-S6 | A1415 |
| hNav1.5 | R1432G | BRGDA1 | DIII S5-S6 | V1419 |
| hNav1.5 | R1432S | BRGDA1 | DIII S5-S6 | V1419 |
| hNav1.5 | G1433V | BRGDA1 | DIII S5-S6 | N1420 |
| hNav1.5 | P1438L | BRGDA1 | DIII S5-S6 | P1425 |
| hNav1.5 | E1441Q | BRGDA1 | DIII S5-S6 | E1428 |
| hNav1.5 | I1448L | BRGDA1 | DIII S6 | I1435 |
| hNav1.5 | I1448T | BRGDA1 | DIII S6 | I1435 |
| hNav1.5 | Y1449C | BRGDA1 | DIII S6 | Y1436 |
| hNav1.5 | V1451D | BRGDA1 | DIII S6 | V1438 |
| hNav1.5 | N1463Y | BRGDA1 | DIII S6 | N1450 |
| hNav1.5 | V1468F | BRGDA1 | DIII S6 | V1455 |
| hNav1.5 | Y1494N | BRGDA1 | DIII - DIV | Y1481 |
| hNav1.5 | L1501V | BRGDA1 | DIII - DIV | L1488 |
| hNav1.5 | G1502S | BRGDA1 | DIII - DIV | G1489 |
| hNav1.5 | R1512W | BRGDA1 | DIII - DIV | R1499 |
| hNav1.5 | I1521K | BRGDA1 | DIII - DIV | I1508 |
| hNav1.5 | V1525M | BRGDA1 | DIII - DIV | V1512 |
| hNav1.5 | K1527R | BRGDA1 | DIII - DIV | N1514 |
| hNav1.5 | E1548K | BRGDA1 | DIV S1-S2 | E1535 |
| hNav1.5 | A1569P | BRGDA1 | DIV S2 | I1556 |
| hNav1.5 | F1571C | BRGDA1 | DIV S2 | F1558 |
| hNav1.5 | E1574K | BRGDA1 | DIV S2 | E1561 |
| hNav1.5 | L1582P | BRGDA1 | DIV S2-S3 | L1569 |
| hNav1.5 | R1583C | BRGDA1 | DIV S2-S3 | R1570 |
| hNav1.5 | R1583H | BRGDA1 | DIV S2-S3 | R1570 |
| hNav1.5 | V1604M | BRGDA1 | DIV S3 | V1591 |
| hNav1.5 | Q1613L | BRGDA1 | DIV S3-S4 | E1600 |
| hNav1.5 | T1620M | BRGDA1 | DIV S3-S4 | T1607 |
| hNav1.5 | R1623Q | BRGDA1 | DIV S4 | R1610 |
| hNav1.5 | R1629Q | BRGDA1 | DIV S4 | R1616 |
| hNav1.5 | G1642E | BRGDA1 | DIV S5 | G1629 |
| hNav1.5 | R1644C | BRGDA1 | DIV S5 | R1631 |
| hNav1.5 | A1649V | BRGDA1 | DIV S5 | A1636 |
| hNav1.5 | I1660V | BRGDA1 | DIV S5 | I1647 |
| hNav1.5 | G1661R | BRGDA1 | DIV S5 | G1648 |
| hNav1.5 | V1667I | BRGDA1 | DIV S5 | V1654 |
| hNav1.5 | S1672Y | BRGDA1 | DIV S5 | A1659 |
| hNav1.5 | A1680T | BRGDA1 | DIV S5-S6 | A1667 |
| hNav1.5 | A1698T | BRGDA1 | DIV S5-S6 | G1685 |
| hNav1.5 | T1709M | BRGDA1 | DIV S5-S6 | T1696 |
| hNav1.5 | T1709R | BRGDA1 | DIV S5-S6 | T1696 |
| hNav1.5 | G1712S | BRGDA1 | DIV S5-S6 | G1699 |
| hNav1.5 | D1714G | BRGDA1 | DIV S5-S6 | D1701 |
| hNav1.5 | N1722D | BRGDA1 | DIV S5-S6 | N1709 |
| hNav1.5 | C1728R | BRGDA1 | DIV S5-S6 | C1715 |
| hNav1.5 | C1728W | BRGDA1 | DIV S5-S6 | C1715 |
| hNav1.5 | G1740R | BRGDA1 | DIV S5-S6 | G1728 |
| hNav1.5 | G1743E | BRGDA1 | DIV S5-S6 | G1731 |
| hNav1.5 | G1743R | BRGDA1 | DIV S5-S6 | G1731 |
| hNav1.5 | V1764F | BRGDA1 | DIV S6 | V1752 |
| hNav1.5 | T1779M | BRGDA1 | C-terminus | T1767 |
| hNav1.5 | E1784K | BRGDA1 | C-terminus | E1772 |
| hNav1.5 | Y1795H | BRGDA1 | C-terminus | Y1783 |
| hNav1.5 | Y1795YD | BRGDA1 | C-terminus | Y1783 |
| hNav1.5 | Q1832E | BRGDA1 | C-terminus | K1820 |
| hNav1.5 | C1850S | BRGDA1 | C-terminus | C1838 |
| hNav1.5 | V1861I | BRGDA1 | C-terminus | V1849 |
| hNav1.5 | K1872N | BRGDA1 | C-terminus | R1860 |
| hNav1.5 | V1903L | BRGDA1 | C-terminus | V1891 |
| hNav1.5 | A1924T | BRGDA1 | C-terminus | I1912 |
| hNav1.5 | G1935S | BRGDA1 | C-terminus | G1920 |
| hNav1.5 | E1938K | BRGDA1 | C-terminus | D1923 |
| hNav1.5 | V1951L | BRGDA1 | C-terminus | N1936 |
| hNav1.5 | I1968S | BRGDA1 | C-terminus | T1949 |
| hNav1.5 | F2004L | BRGDA1 | C-terminus | D1982 |
| hNav1.5 | F2004V | BRGDA1 | C-terminus | D1982 |
| hNav1.5 | T220I | SSS1 | DI S4 | T215 |
| hNav1.5 | A735V | SSS1 | DII S1-S2 | A762 |
| hNav1.5 | P1298L | SSS1 | DIII S3-S4 | P1285 |
| hNav1.5 | G1408R | SSS1 | DIII S5-S6 | G1395 |
| hNav1.5 | D1792N | SSS1 | C-terminus | E1780 |
| hNav1.5 | S1710L | VF1 | DIV S5-S6 | S1697 |
| hNav1.5 | F532C | SIDS | DI - DII | F557 |
| hNav1.5 | S941N | SIDS | DII - DIII | S970 |
| hNav1.5 | G1084S | SIDS | DII - DIII | – |
| hNav1.5 | S1333Y | SIDS | DIII S4-S5 | S1320 |
| hNav1.5 | F1705S | SIDS | DIV S5-S6 | F1692 |
| hNav1.5 | D1275N | ATRST1 | DIII S3 | D1262 |
| hNav1.5 | D1275N | CMD1E | DIII S3 | D1262 |
| hNav1.5 | M138I | ATFB10 | DI S1 | M133 |
| hNav1.5 | E428K | ATFB10 | DI - DII | K417 |
| hNav1.5 | H445D | ATFB10 | DI - DII | Q434 |
| hNav1.5 | N470K | ATFB10 | DI - DII | S472 |
| hNav1.5 | A572D | ATFB10 | DI - DII | S599 |
| hNav1.5 | E655K | ATFB10 | DI - DII | D682 |
| hNav1.5 | E1053K | ATFB10 | DII - DIII | E1095 |
| hNav1.5 | T1131I | ATFB10 | DII - DIII | E1140 |
| hNav1.5 | R1826C | ATFB10 | C-terminus | L1814 |
| hNav1.5 | V1951M | ATFB10 | C-terminus | N1936 |
| hNav1.5 | N1987K | ATFB10 | C-terminus | E1967 |
| hNav1.5 | R222Q | MEPPC | DI S4 | R217 |
PFHB1A: Progressive familial heart block 1A; LQT3: Long QT syndrome 3; BRGDA1: Brugada syndrome 1; SSS1: Sick sinus syndrome 1; VF1: Familial paroxysmal ventricular fibrillation 1; SIDS: Sudden infant death syndrome; ATRST1: Atrial standstill 1; CMD1E: Cardiomyopathy, dilated 1E; ATFB10: Atrial fibrillation, familial, 10; MEPPC: Multifocal ectopic Purkinje-related premature contraction