Table 4 The discovered missense mutations into the coding sequence of CLDN5 gene
From: The CLDN5 gene at the blood-brain barrier in health and disease
Mutant | Number | Note | Ref |
|---|---|---|---|
G60R (c.178G > A) | 4 | All of them developed hemiplegia and 2 of them are diagnosed with AHC. | |
G60R (c.178G > C) | 1 | Not developed hemiplegia so far. | [160] |
V41M (c.121G > A) | 3 | Its barrier forming ability was normal in epithelial cells overexpressing this mutant. | |
Q63K (c.187 C > A) | 1 | The most severe phenotype was observed. | [160] |
N39S (c.116 A > G) | 2 | It is located in the interface of trans-interaction | [160] |
F35L (c.105 C > G) | 1 | It is located in the interface of trans-interaction | [160] |
I40V (c.118 A > G) | 1 | It is located in the interface of trans-interaction | [160] |
A43P (c.127G > C) | 1 | It is located in the interface of trans-interaction | [160] |
V55A (c.164T > C) | 1 | It is located in the gate region | [160] |
S58R (c.174 C > G) | 1 | It is located in the gate region | [160] |