Variant position: 298 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 HKCVRNFTALNGTNGSVEAD GLVWESLDLYLSDPENYLLKN
Mouse HKCVRNFTELNGTNGSVEAD GIVWNSLDVYLNDPANYLLKN
Rat HKCVRNFTELNGTNGSVEAD GLVWNSLDVYLNDPANYLLKN
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
273 – 357 Extracellular
113 – 420 I
283 – 283 N-linked (GlcNAc...) asparagine
288 – 288 N-linked (GlcNAc...) asparagine
291 – 291 N-linked (GlcNAc...) asparagine
318 – 318 N-linked (GlcNAc...) asparagine
280 – 335
Clinical, genetic and biophysical characterisation of SCN5A mutations associated with atrioventricular conduction block.
Wang D.W.; Viswanathan P.C.; Balser J.R.; George A.L. Jr.; Benson D.W.;
Cited for: CHARACTERIZATION OF VARIANTS PFHB1A SER-298 AND ASN-1595;
Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.
Saito Y.A.; Strege P.R.; Tester D.J.; Locke G.R. III; Talley N.J.; Bernard C.E.; Rae J.L.; Makielski J.C.; Ackerman M.J.; Farrugia G.;
Am. J. Physiol. 296:G211-G218(2009)
Cited for: VARIANT IRRITABLE BOWEL SYNDROME SER-298; CHARACTERIZATION OF VARIANT IRRITABLE BOWEL SYNDROME SER-298;
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.