Variant position: 83 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 VKYLPGHKLPENVVAMSNLS EAVQDADLLVFVIPHQFIHRI
Mouse VKYLPGHKLPENVVAVPNLS EAVQDADLLVFVIPHQFIHKI
Xenopus laevis VKYLPGHKLPENVVALPNLT DAVRDADLLIFVIPHQFIHKV
Xenopus tropicalis VKYLPGYKLPENVVAVPNLS DAVKDADLLIFVIPHQFIHKI
Zebrafish VKYLPGYKLPENVVAVPQLR DAADGADLLVFVVPHQFIRKL
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 – 351 Glycerol-3-phosphate dehydrogenase 1-like protein
81 – 85
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;
Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.
Van Norstrand D.W.; Valdivia C.R.; Tester D.J.; Ueda K.; London B.; Makielski J.C.; Ackerman M.J.;
Cited for: VARIANTS BRGDA2 LYS-83; VAL-124 AND CYS-273; CHARACTERIZATION OF VARIANTS BRGDA2 LYS-83; VAL-124 AND CYS-273;
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.