Table 2.
NO. OF DNA | Exon, Gene | NT | Codon | Base Cange | Mutation Type | Designation | AA Cange |
8 | 12 BRCA1 | 4236 | 1373 | G to T | Nonsense | E1373X | E to STOP |
11 | 16 BRCA1 | 5075 | 1652 | G to A | Missense-UV | M1652I | M to I |
9 | 1BRCA1 | -233 from 5UTR | g to a | IVS | -233 from 5UTR g/a | ||
8 | IVS6 BRCA1 | IVS6 +62 | t to c | IVS | IVS6 -62 t/c | IVS | |
9,10,11 | IVS7 BRCA1 | IVS7 -65 | Del a | IVS7 -65 del a | IVS | ||
9 | 11.3 BRCA1 | 1868 | 583 | A toG | K to K | K583K | Silent |
11 | 11.3 BRCA1 | 1955 | 612 | G to A | R to R | R612R | Silent |
9,10,11 | 11.4 BRCA1 | 2196 | 693 | G to A | D to N | D693N | Missense -P |
9,10,11 | 11.4 BRCA1 | 3001 | 694 | C to T | S to S | S694S | Silent |
9,10,11 | 11.5 BRCA1 | 2430 | 771 | T to C | L to L | L771L | Silent |
9,10,11 | 11.5 BRCA1 | 2731 | 871 | C to T | P to L | P871L | Missense-P |
8,9,10,11 | 11.7 BRCA1 | 3232 | 1038 | A to G | E to G | E1038G | Missense-P |
8,9 | 11.8 BRCA1 | 3667 | 1183 | A to G | K to R | K1183R | Missense-P |
9,10,11 | 13 BRCA1 | 4427 | 1436 | T to C | S to S | S1436S | Silent |
8,9,10,11 | 16 BRCA1 | 4956 | 1613 | A to G | S to G | S1613G | Missense-P |
8,9,10,11 | IVS17 BRCA1 | IVS17+66 | g to a | IVS17 +66 g/a | IVS | ||
8,9,11 | 2BRCA2 | 202 | g to a | 5UTR -27 g/a | |||
11 | IVS2 BRCA2 | IVS2 -7 | t to a | IVS2 -7 t/a | IVS | ||
11 | IVS8 BRCA2 | IVS8 +56 | c to t | IVS8 +56 c/t | IVS | ||
8,10 | 10.2BRCA2 | 1342 | 372 | A to C | H to N | H372N | Missense-P |
8,9,10,11 | 11.4BRCA2 | 3624 | 1132 | A to G | K to K | K1132K | Silent |
9 | 11.5BRCA2 | 4035 | 1269 | T to C | V to V | V1269V | Silent |
8,9,10,11 | 14BRCA2 | 7470 | 2414 | A to G | S to S | S2414S | Silent |
Missense-UV – according to BIC database [13]
Missense-P – polymorphism according to BIC database.
IVS – Intronic sequences variation
Silent – no amino acid changes