TABLE 4.
Mutation type | Mutant | Positiona | Exon | Base change | Sequence change | Amino acid |
---|---|---|---|---|---|---|
Transversion | SP-17 | 617 | 9 | GC→TA | ATTT(G)TGTC | Val→Phe |
Double mutation | SP-7 | 530 | 7 | AT→GC | CCAG(A)CTTT | Asp→Gly |
531 | 7 | CG→AT | CAGA(C)TTTG | Asp→Glu | ||
Insertion | SP-23 | 438–441 | 6 | Insertion of 21 bp | ||
Frameshift | SP-5 | 156 | 3 | Del. of 1 bp | GAGA(T)GTCA | |
Deletion | SP-21 | 137 | 3 | Del. of 8 bp | ||
SP-11 | Del. ex. 2 | Del. ex. 2 | ||||
SP-12 | Del. ex. 4 | Del. ex. 4 | ||||
SP-14 | Del. ex. 4 | Del. ex. 4 | ||||
SP-20 | Del. ex. 2, 3, and 4 | Del. ex. 2, 3, and 4 | ||||
SP-2 | No cDNA | Del. of entire gene | ||||
SP-8 | No cDNA | Del. of entire gene | ||||
SP-13 | No cDNA | Del. of entire gene | ||||
SP-15 | No cDNA | Del. of entire gene | ||||
SP-16 | No cDNA | Del. of entire gene | ||||
SP-19 | No cDNA | Del. of entire gene | ||||
Other | SP-3 | No cDNA | All ex. present | |||
SP-10 | No cDNA | All ex. present | ||||
SP-22 | No cDNA | All ex. present | ||||
SP-24 | No cDNA | All ex. present | ||||
SP-25 | Del. ex. 7 | Splice | ||||
SP-18 | No mutation found |
Del., deletion; ex., exon(s).