Variant position: 1304 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:
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 VSLVANTLGFAEMGPIKSLR TLRALRPLRALSRFEGMRVVV
Mouse VSLVANTLGFAEMGPIKSLR TLRALRPLRALSRFEGMRVVV
Rat VSLVANTLGFAEMGPIKSLR TLRALRPLRALSRFEGMRVVV
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
1 – 2016 Sodium channel protein type 5 subunit alpha
1298 – 1316 Helical; Name=S4 of repeat III
1187 – 1501 III
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.
Wattanasirichaigoon D.; Vesely M.R.; Duggal P.; Levine J.C.; Blume E.D.; Wolff G.S.; Edwards S.B.; Beggs A.H.;
Am. J. Med. Genet. 86:470-476(1999)
Cited for: VARIANTS LQT3 MET-1304 AND MET-1645; VARIANT ASN-1500;
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
Kapplinger J.D.; Tester D.J.; Salisbury B.A.; Carr J.L.; Harris-Kerr C.; Pollevick G.D.; Wilde A.A.; Ackerman M.J.;
Heart Rhythm 6:1297-1303(2009)
Cited for: VARIANTS LQT3 GLN-18; HIS-27; GLY-30; GLN-43; LYS-48; SER-52; GLN-53; GLY-104; GLY-115; LEU-125; PRO-212; GLN-222; TRP-225; MET-240; LEU-247; LYS-275; SER-289; TRP-340; CYS-367; MET-370; THR-397; LYS-406; VAL-409; MET-411; GLU-429 DEL; ALA-462; VAL-530; GLN-535; TRP-569; ILE-571; SER-572; VAL-572; 586-ALA-LEU-587 DEL; GLU-615; ARG-639; LYS-654; PRO-673; CYS-689; LEU-701; ILE-731; ARG-750; ASN-772; TYR-816; PHE-848; LYS-960; LEU-965; PHE-981; SER-997; ARG-1004; LYS-1053; MET-1069; VAL-1100; ASN-1114; ASN-1166; SER-1199; ILE-1212 DEL; MET-1283; MET-1304; SER-1325; SER-1326; VAL-1334; VAL-1338; SER-1432; SER-1472; CYS-1473; GLU-1481; LEU-1487; ARG-1488; ASP-1489; ARG-1493; SER-1495; VAL-1498; VAL-1501; ASN-1505; ILE-1532; PHE-1560; MET-1593; SER-1594; ILE-1596; PHE-1617 DEL; GLN-1623; LEU-1623; HIS-1626; CYS-1644; PHE-1650; THR-1652; ASN-1723; TRP-1739; HIS-1761; PHE-1761; MET-1763; MET-1777; MET-1779; LYS-1784; CYS-1795; HIS-1826; GLY-1839; TRP-1897; GLN-1901; ASN-1977; VAL-2004 AND CYS-2012;
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.