Sequence information
Variant position: 1225 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2016 The length of the canonical sequence.
Location on the sequence: E DIYLEERKTIKVLLEYADKM
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SWFETFIIFMILLSSGALAFE DIYLEERKTIKVLLEYADKM
Mouse SWFETFIIFMILLSSGALAFE DIYLEERKTIKVLLEYADKM
Rat SWFETFIIFMILLSSGALAFE DIYLEERKTIKVLLEYADKM
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 2016 Sodium channel protein type 5 subunit alpha
Topological domain
1225 – 1237 Extracellular
Repeat
1187 – 1501 III
Literature citations
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
Smits J.P.P.; Eckardt L.; Probst V.; Bezzina C.R.; Schott J.-J.; Remme C.A.; Haverkamp W.; Breithardt G.; Escande D.; Schulze-Bahr E.; LeMarec H.; Wilde A.A.M.;
J. Am. Coll. Cardiol. 40:350-356(2002) Cited for: VARIANTS BRGDA1 LYS-161; CYS-367; LYS-369; ARG-752; LYS-1225; VAL-1319; ILE-1382; LEU-1405; ARG-1406; LYS-1479 DEL; SER-1502; TRP-1512; GLU-1743 AND THR-1924;
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester D.J.; Will M.L.; Haglund C.M.; Ackerman M.J.;
Heart Rhythm 2:507-517(2005) Cited for: VARIANTS LQT3 LEU-125; LYS-245; GLN-404; LYS-406; MET-411; LYS-462; ASP-572; GLU-615; LEU-637; LEU-648; CYS-971; MET-1069; LYS-1225; LYS-1231; SER-1325; TYR-1458; GLU-1481; 1505-LYS--GLN-1507 DEL; LEU-1623; HIS-1644; ILE-1667; MET-1763; LEU-1766; MET-1777; MET-1779; LYS-1784; CYS-1795; ARG-1909 AND SER-1949; VARIANTS TRP-18; PHE-618 AND GLN-1958;
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Kapplinger J.D.; Tester D.J.; Alders M.; Benito B.; Berthet M.; Brugada J.; Brugada P.; Fressart V.; Guerchicoff A.; Harris-Kerr C.; Kamakura S.; Kyndt F.; Koopmann T.T.; Miyamoto Y.; Pfeiffer R.; Pollevick G.D.; Probst V.; Zumhagen S.; Vatta M.; Towbin J.A.; Shimizu W.; Schulze-Bahr E.; Antzelevitch C.; Salisbury B.A.; Guicheney P.; Wilde A.A.; Brugada R.; Schott J.J.; Ackerman M.J.;
Heart Rhythm 7:33-46(2010) Cited for: VARIANTS TRP-18; CYS-34; HIS-34; LEU-216; SER-286; SER-291; MET-299; CYS-376; GLY-447; ALA-449; VAL-461; SER-475; TRP-481; TYR-524; ARG-558; HIS-568; ARG-579; LYS-592; GLY-596; ALA-601; PHE-618; ASP-638; LEU-656; THR-672; HIS-689; LYS-692; PHE-705; ILE-924; GLN-986; MET-1016; ARG-1040; ALA-1082; LEU-1090; LEU-1098; TYR-1103; LYS-1107; TRP-1116; GLN-1193; MET-1251; SER-1293; PHE-1308; TRP-1512; ASN-1787; THR-1836; LYS-1901; CYS-1919; LEU-1951; GLN-1958; LEU-1962; MET-1968; GLN-1991; LEU-2004 AND ALA-2006; VARIANTS BRGDA1 GLN-18; LYS-70; ASN-84; SER-93; SER-94; GLN-104; TRP-104; LYS-109; GLN-121; TRP-121; GLU-126; PRO-136; MET-146; GLN-161; LYS-161; ASN-175; GLY-178; ARG-182; VAL-185; VAL-204; GLN-212; ILE-220; GLN-222; LEU-223; TRP-225; VAL-226; ILE-232; MET-240; LYS-270; GLN-276; ASP-278; CYS-282; ILE-300; PRO-315; ASN-320; ARG-325; LEU-336; ASP-351; VAL-351; ASN-356; CYS-367; HIS-367; LEU-367; LYS-369; GLY-374; HIS-376; ARG-386; GLU-386; ALA-396; LEU-396; LYS-439; GLY-501; HIS-526; CYS-532; LEU-543; ARG-552; GLU-615; PHE-619; CYS-620; MET-632; ALA-640; ASP-647; LEU-648; TRP-661; GLY-683; LEU-701; LEU-717; VAL-735; LYS-746; ARG-752; GLU-758; ARG-764; ASN-772; SER-773; ILE-789; PRO-808; PRO-839; LEU-851; GLN-867; CYS-878; HIS-878; PRO-886; CYS-893; HIS-893; LYS-901; LEU-910; ARG-915; ARG-917; SER-927; PRO-928; PRO-935; CYS-965; HIS-965; THR-997; LYS-1053; GLY-1055; TYR-1079; VAL-1113; THR-1140; ASN-1219; LYS-1225; HIS-1228; GLN-1232; TRP-1232; PRO-1239; ASN-1243; ASP-1249; GLY-1253; SER-1262; CYS-1271; ASN-1275; GLY-1288; PRO-1311; VAL-1319; GLY-1323; LEU-1332; LEU-1344; ILE-1346; PRO-1346; ARG-1351; MET-1353; TRP-1358; ASN-1359; CYS-1360; TYR-1363; ILE-1382; LEU-1405; MET-1405; ARG-1406; GLU-1406; ARG-1408; CYS-1409; PHE-1412; GLU-1419; ARG-1420; SER-1427; VAL-1428; GLY-1432; SER-1432; VAL-1433; LEU-1438; GLN-1441; LEU-1448; THR-1448; CYS-1449; ASP-1451; TYR-1463; PHE-1468; VAL-1501; LYS-1521; MET-1525; LYS-1548; CYS-1571; LYS-1574; PRO-1582; CYS-1583; HIS-1583; MET-1604; LEU-1613; MET-1620; GLN-1623; GLN-1629; GLU-1642; VAL-1660; ARG-1661; ILE-1667; TYR-1672; THR-1680; THR-1698; ARG-1709; MET-1709; SER-1712; GLY-1714; ASP-1722; ARG-1728; TRP-1728; ARG-1740; ARG-1743; GLU-1743; PHE-1764; MET-1779; LYS-1784; GLU-1832; ILE-1861; ASN-1872; LEU-1903; THR-1924; SER-1935; LYS-1938 AND VAL-2004;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.