Variant position: 514 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 LPKSDSEDGPRAMNHLSLTR GLSRTSMKPRSSRGSIFTFRR
Mouse LPKSDSEDGPRALNQLSLTH GLSRTSMRPRSSRGSIFTFRR
Rat LPKSDSEDGPRALNQLSLTH GLSRTSMRPRSSRGSIFTFRR
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
511 – 526 Polar residues
497 – 497 Phosphoserine
510 – 510 Phosphoserine
513 – 513 Dimethylated arginine; alternate
513 – 513 Omega-N-methylarginine; alternate
526 – 526 Dimethylated arginine; alternate
526 – 526 Omega-N-methylarginine; alternate
A sodium-channel mutation causes isolated cardiac conduction disease.
Tan H.L.; Bink-Boelkens M.T.E.; Bezzina C.R.; Viswanathan P.C.; Beaufort-Krol G.C.M.; van Tintelen P.J.; van den Berg M.P.; Wilde A.A.M.; Balser J.R.;
Cited for: CHARACTERIZATION OF VARIANT PFHB1A CYS-514;
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
Meregalli P.G.; Tan H.L.; Probst V.; Koopmann T.T.; Tanck M.W.; Bhuiyan Z.A.; Sacher F.; Kyndt F.; Schott J.-J.; Albuisson J.; Mabo P.; Bezzina C.R.; Le Marec H.; Wilde A.A.M.;
Heart Rhythm 6:341-348(2009)
Cited for: VARIANTS BRGDA1 LYS-161; CYS-367; HIS-367; CYS-514; ARG-752; TRP-1232; ASN-1275; VAL-1319; ARG-1408; TRP-1512; GLY-1714; ARG-1740; GLU-1743 AND THR-1924; VARIANTS PFHB1A LYS-161; CYS-367; HIS-367; CYS-514; ARG-752; TRP-1232; ASN-1275; VAL-1319; ARG-1408; TRP-1512; GLY-1714; ARG-1740; GLU-1743 AND THR-1924;
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.