Table 1 of
Bright, Mol Vis 2005;
11:1141-1150.Table 1 of
Bright, Mol Vis 2005;
11:1141-1150.
Table 1. CNGB3 mutations: gating alterations and disease
Summary of gating alterations and diseases diagnoses for functionally characterized mutations in the CNGB3 subunit. Diagnoses included complete achromatopsia (ACHR), progressive cone dystrophy (PCD), and macular degeneration (MD). The affinity coefficients ("Aff. Coeff.") are the K1/2 for cGMP or cAMP. The disease characteristics listed are taken from published reports [3,27-29].
Functional effects on channel
Pathology ------------------------------------
-------------------------------------------------------- Aff. Coeff. Aff. Coeff.
CNGB3 cGMP ratio cAMP ratio
Mutation(s) Diagnosis Disease characteristics Severity (wt/mutant) (wt/mutant) References
--------------- --------- -------------------------- -------- ----------- ----------- ----------
F525N/F525N ACHR Very low visual acuity, +++ 2.97 2.65 [10]
absent cone ERG response,
and photophobia from birth
S435F/S435F ACHR +++ 1.72 4.60 [8,11,29]
T383fsX/T383fsX ACHR ++ 1.28 0.69 [11,29]
D633G/D633G ACHR +++ 2.20 ND [30]
R403Q/T383fsX PCD Color vision problems + 1.34 0.89 [27]
develop later in childhood
and progressively
deteriorate
R403Q/R403Q MD Mild reduction in visual + 1.33 0.84 [28]
acuity with progression
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