TABLE 1.
Amino acid exchange | Nucleotide exchange | Exon | Domain | Clinical consequence | Reference no. |
---|---|---|---|---|---|
N548I (NI) | 1643A→T | 13 | cbEGF4 | Classical | (62) |
R627C (RC) | 1879C→T | 15 | cbEGF6 | Classical | (63) |
C750G (CG) | 2248T→A | 18 | cbEGF7 | Classical | (63) |
G1013R (GR) | 3037G→A | 24 | TB3 | Neonatal | (64) |
C1032Y (CY) | 3095G→A | 25 | cbEGF11 | Neonatal | (65) |
I1048T (IT) | 3143T→C | 25 | cbEGF11 | Neonatal | (65) |
E1073K (EK) | 3217G→A | 26 | cbEGF12 | Neonatal | (64) |
C1182S (CS) | 3545G→C | 28 | cbEGF14 | Neonatal | (66) |