Variant position: 462 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 KKEHEALTIRGVDTVSRSSL EMSPLAPVNSHERRSKRRKRM
Mouse KKEHEALTIRGVDTVSRSSL EMSPLAPVTNHERRSKRRKRL
Rat KKEHEALTIRGVDTVSRSSL EMSPLAPVTNHERKSKRRKRL
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
411 – 717 Cytoplasmic
461 – 591 Disordered
457 – 457 Phosphoserine
460 – 460 Phosphoserine
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;
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.