Table 2.
Patient | Allele 1 | Allele 2 |
1 | 932C→T (A282V) |
932C→T (A282V) |
2 | 932C→T (A282V) |
932C→T (A282V) |
3 | 932C→T (A282V) |
932C→T (A282V) |
4 | 932C→T (A282V) |
932C→T (A282V) |
5 | 932C→T (A282V) |
932C→T (A282V) |
6 | 932C→T (A282V) |
149G→A (R21H)a |
7 | 932C→T (A282V) |
149G→C (R21P) |
8 | 932C→T (A282V) |
262G→T (G59C)a |
9 | 932C→T (A282V) |
359G→A (G91E)a |
10 | 932C→T (A282V) |
436A→G (K117E)a |
11 | 932C→T (A282V) |
868G→A (G261R)a |
12 | 932C→T (A282V) |
870_871insGa |
13 | 932C→T (A282V) |
IVS4+2T→C |
14 | 125T→C (L13P) | IVS2-1G→Ca |
15 | 149G→C (R21P) | IVS8-2A→Ga |
16 | 149G→C (R21P) | 851G→A (R255Q)a |
17 | 943A→C (K286Q)a | IVS3+5G→Ta,b |
18 | 1136T→C (F350S)a | IVS3+5G→Tb |
19 | 358G→A (G91R)a | NI |
Note.— Nucleotide changes are shown; the corresponding amino acid change of the mature protein is in parentheses. The most common mutation (932C→T) is underlined. NI= not identified.
Novel mutations.
By comparison of the sequence environment with the wild-type sequence, by use of Splice Site Prediction by Neural Network, this intronic variant is expected to affect RNA splicing by compromising the splice-site consensus sequence.