Variant position: 280 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 351 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 VADLITTCYGGRNRRVAEAF ARTGKTIEELEKEMLNGQKLQ
Mouse VADLITTCYGGRNRRVAEAF ARTGKTIEELEKELLNGQKLQ
Xenopus laevis VADLITTCYGGRNRKVAEAF VKTGKSIEELEKEMLNGQKLQ
Xenopus tropicalis VADLITTCYGGRNRKVSEAF VKSGKSIEELEKEMLNGQKLQ
Zebrafish VADLITTCYGGRNRRVAEAF AKTGKSIEELEKEMLNGQKLQ
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.
GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.
Valdivia C.R.; Ueda K.; Ackerman M.J.; Makielski J.C.;
Am. J. Physiol. 297:H1446-H1452(2009)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS BRGDA2 LYS-83 AND VAL-280; INTERACTION WITH SCN5A; CATALYTIC ACTIVITY;
Cardiac Na+ current regulation by pyridine nucleotides.
Liu M.; Sanyal S.; Gao G.; Gurung I.S.; Zhu X.; Gaconnet G.; Kerchner L.J.; Shang L.L.; Huang C.L.; Grace A.; London B.; Dudley S.C. Jr.;
Circ. Res. 105:737-745(2009)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT BRGDA2 VAL-280;
Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.
London B.; Michalec M.; Mehdi H.; Zhu X.; Kerchner L.; Sanyal S.; Viswanathan P.C.; Pfahnl A.E.; Shang L.L.; Madhusudanan M.; Baty C.J.; Lagana S.; Aleong R.; Gutmann R.; Ackerman M.J.; McNamara D.M.; Weiss R.; Dudley S.C. Jr.;
Cited for: TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANT BRGDA2 VAL-280; CHARACTERIZATION OF VARIANT BRGDA2 VAL-280;
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