Table 1 of
Demirci, Mol Vis 2006;
12:324-330.Table 1 of
Demirci, Mol Vis 2006;
12:324-330.
Table 1. Molecular and major clinical features of SLC4A4 mutations
A summary and comparison of molecular and major clinical features of different SLC4A4 mutations. The features presented affected at least 30% of patients. All patients had proximal renal tubular acidosis and short stature. The table presents additional systemic findings that affected at least 30% of patients, such as mental retardation (MR) and enamel defects (ED). The ocular findings included glaucoma (Glc), band keratopathy (Bk), and cataract (Cat). The asterisk indicates data that originated from this study. Some information from other studies was not clearly determined (nd).
Affected
Ocular NBCe1
Mutation Sex pathology MR ED variants Effect on oocyte NBCe1 protein
-------- ------ ---------------- -- -- -------- --------------------------------
Q29X Female Glc + - kNBCe1 Loss of function due to protein
truncation
R298S Female Glc, Bk, Cat + - kNBCe1 About 41% of wild-type activity
pNBCe1
S427L Female Glc, Bk, Cat - + kNBCe1 About 10% of wild-type activity
pNBCe1
T485S Male Glc(nd), Bk, Cat nd - kNBCe1 About 50% of wild-type activity
pNBCe1 in ECV304 cells; no activity in
oocytes
R510H Female Glc, Bk, Cat nd - kNBCe1 About 57% of wild-type activity
pNBCe1 in ECV304 cells; 4% of wild-type
activity in oocytes
L522P* Male Glc, Bk, Cat - + kNBCe1 Loss of function due to impaired
pNBCe1 translational processing and
membrane trafficking
2311delA Male Glc, Bk, Cat - + kNBCe1 Loss of function due to protein
pNBCe1 truncation
A799V Female Glc, Bk, Cat + - kNBCe1 About 14% of wild-type activity
pNBCe1
R881C Female Glc(nd), Bk, Cat nd - kNBCe1 About 39% of wild-type activity
pNBCe1
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