| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
NGLY1 |
| Chromosomal Location |
3p24.2 |
| Allelic Variant 1 |
p.G310G; CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG |
| Identified Mutation |
GLY310GLY; The NGLY1 gene encodes N-glycanase (EC 3.5.1.52), a highly conserved enzyme that catalyzes deglycosylation of misfolded N-linked glycoproteins by cleaving the glycan chain before the proteins are degraded by the proteasome (Zhou et al., 2006). NGLY1 is a cytoplasmic component of the endoplasmic reticulum-associated degradation (ERAD) pathway that identifies and degrades misfolded glycoproteins (summary by Enns et al., 2014). |
| |
| Gene |
CACNA1S |
| Chromosomal Location |
1q32.1 |
| Allelic Variant 1 |
; MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 |
| Identified Mutation |
THR1354SER; The major type of voltage-sensitive Ca(2+) channels in skeletal muscle is the slowly inactivating L-type that is sensitive to calcium channel blockers such as 1,4-dihydropyridines (DHP), phenylalkylamines, and benzothiazepines. These skeletal muscle Ca(2+) channels play a key role in excitation-contraction coupling, a process whereby electrical signals generated by action potentials at the muscle cell surface are transduced into intracellular release of calcium and ultimately muscle fiber contraction. The DHP-sensitive L-type Ca(2+) channel from skeletal muscle is an oligomeric protein composed of 2 high molecular weight polypeptide subunits (alpha-1 and alpha-2) and 3 smaller units (beta, gamma, and delta). |