Table 2

The rates are the percentage of mutation carriers in the Colombian and global population, using the 1000 Genomes Project

CasesGenePosition at cDNAProtein changersVariant typeGMAFColombian rate
Case 1TREM2c.469C>Tp.H157Yrs2234255Missense0.00280.020
TREM2c.185G>Ap.R62Hrs143332484Missense0.00490.016
VAPBc.510G>Ap.M170Irs143144050Missense0.00100.000
DCTN1c.1998G>Ap.T666=rs149900553Synonymous0.00081000
SETXc.6507G>Ap.G2169=rs34073320Synonymous0.00980.037
LRRK2c.4624C>Tp.P1542Srs33958906Missense0.01320.069
Case 2TREM2c.469C>Tp.H157Yrs2234255Missense0.00280.020
OPTNc.1339ยช>Gp.M447VMissenseNDND
SNCAc.216G>Ap.Thr72=rs144758871SynonymousNDND
Case 3TREM2c.469C>Tp.H157Yrs2234255Missense0.00280.020
MFSD8c.1153G>Cp.G385Rrs11098943MissenseNDND
  • DCTN1, dynactin subunit 1; GMAF, global minor allele frequency; LRRK2, leucine-rich repeat kinase 2; MSFD8, major facilitator superfamily domain-containing protein 8; ND, no data; OPTN, optineurin; SETX, senataxin; SNCA, synuclein alpha; TREM2, triggering receptor expressed on myeloid cells 2; VAPB, VAMP-associated protein B and C.