Table 3. Summary of mutations detected so far in the SLC4A11 gene in CHED2 families.

Mutation	Exon/intron	Nature of mutation	Effect of protein	Ethnic origin of families	Reference
g.2943delTTinsA (R82RfsX33)	2	Indel	Truncation of protein and addition of novel amino acids	1 Indian family	[5]
c.353_356delAGAA	4	Deletion	Truncation of protein	1 Indian family	[4]
c.859-862delGAGAinsCCT (E287fsX21)	8	Indel	"Truncation of protein and addition of novel amino acids, absence of all TMDs"	1 Indian family	Present study
c.1391G>A (G464D)	11	Missense	Conformation change	3 Pakistani families	[4]
c.1466C>T (S489L)	12	Missense	Conformation change	1 Pakistani family	[4]
g.8118delCT (H568HfsX177)	13	Deletion	Truncation of protein and addition of novel amino acids	1 Indian family	[5]
c.1813C>T (R605X)	14	Nonsense	Truncation of protein	3 Indian families	[4], [5]
g.8379G>T (E632X)	14	Nonsense	Truncation of protein	1 Indian family	[5]
IVS15-6_-16delins GGCCGGCCGG	15	Indel	Inactivation of an accepter splice site	1 Indian family	[4]
c.2014_2016delTTC or c.2017_2019delTTC (F672del or F673del)	15	In-frame deletion	Disruption of TMD number 8	1 Indian family	Present study
c.2264G>A (R755Q)	17	Missense	Conformation change	2 Indian and 1 Myanmar families	[4], [5]
g.9191G>A (R804H)	17	Missense	Conformation change	1 Indian family	[5]
g.9200delTinsGG (L807RfsX71)	17	Indel	Truncation of protein and addition of novel amino acids	1 Indian family	[5]
g.9361C>T (T833M)	18	Missense	Conformation change	2 Indian families	[5]
c.2605C>T (R869C)	18	Missense	Conformation change	1 Indian family	[4]
g.9469G>A (R869H)	18	Missense	Conformation change	2 Indian families	[5]

A total of 16 SLC4A11 mutations have been detected so far in 24 CHED2 families from Myanmar, Pakistan, and India.