TABLE 3.
A table representing some of the founder variations prevalent in a highly endogamous Indian Agrawal community.
S. no. | Disorder | Gene | Variation | References |
1 | LGMD2A | CAPN3 | c.2338G>C | Ankala et al., 2013, 2015 |
c.2099-1G>T | ||||
2 | Megalencephalic leukodystrophy with sub-cortical cysts | MLC1 | c.135dupC | Gorospe et al., 2004 |
3 | PKAN | PANK2 | c.125_216insA | Udani et al., 2017 |
4 | Spinocerebellar ataxia type 12 | PPP2R2B | CAG expansion | Sinha, 2005 |