Table 3 of
Kumar, Mol Vis 2007;
13:39-46.Table 3 of
Kumar, Mol Vis 2007;
13:39-46.
Table 3. Summary of mutations detected so far in the SLC4A11 gene in CHED2 families
A total of 16 SLC4A11 mutations have been detected so far in 24 CHED2 families from Myanmar, Pakistan, and India.
Nature
Exon/ of Ethnic origin
Mutation intron mutation Effect on protein of families Reference
---------------------- ------ -------- -------------------- -------------------- ---------
g.2943delTTinsA 2 Indel Truncation of 1 Indian family [5]
(R82RfsX33) protein and addition
of novel amino acids
c.353_356delAGAA 4 Deletion Truncation of 1 Indian family [4]
protein
c.859-862delGAGAinsCCT 8 Indel Truncation of 1 Indian family Present
(E287fsX21) protein and addition study
of novel amino
acids, absence of
all TMDs
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 13 Deletion Truncation of 1 Indian family [5]
(H568HfsX177) protein and addition
of novel amino acids
c.1813C>T (R605X) 14 Nonsense Truncation of 3 Indian families [4],[5]
protein
g.8379G>T (E632X) 14 Nonsense Truncation of 1 Indian family [5]
protein
IVS15-6_-16delins 15 Indel Inactivation of an 1 Indian family [4]
GGCCGGCCGG acceptor splice site
c.2014_2016delTTC or 15 In-frame Disruption of TMD 1 Indian family Present
c.2017_2019delTTC deletion number 8 study
(F672del or F673del)
c.2264G>A (R755Q) 17 Missense Conformation change 2 Indian and [4],[5]
1 Myanmar families
g.9191G>A (R804H) 17 Missense Conformation change 1 Indian family [5]
g.9200delTinsGG 17 Indel Truncation of 1 Indian family [5]
(L807RfsX71) protein and addition
of novel amino acids
g.9361C>T (T833M) 18 Missense Conformation change 2 Indian families [5]
c.2605C>T (R869C) 18 Missense Conformation change 1 Indian families [4]
g.9469G>A (R869H) 18 Missense Conformation change 2 Indian families [5]
|