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. 2011 Mar 24;2011:632870. doi: 10.1155/2011/632870

Table 2.

Mutational spectrum of BRCA2 gene in Pakistani population.

No Exon no. Point of mutation Mutation Ethnicity Reference
Type of mutation

Deletion

1 22 9140delA frameshift and truncation 1 Muhajir Liede et al. [22]
2 11 3913delG frameshift and truncation 1 Sindhi Liede et al. [22]
3 11 5950delCT frameshift and truncation 1 Punjabi Liede et al. [22]
4 11 6696delTC frameshift and truncation 1 Punjabi Liede et al. [22]
5 11 2674delG frameshift and truncation 1 Muhajir Liede et al. [22]
6 11 5057delTG frameshift and truncation 1 Punjabi 1 Parsi Liede et al. [22]; Rashid et al. [14]
7 11 3179delA frameshift and truncation 1 Muhajir Liede et al. [22]
8 10 1993delAA frameshift and truncation 1 Multiracial Rashid et al. [14]
9 11 4052delTAGA frameshift and truncation 1 Multiracial Rashid et al. [14]
10 25 9658delT frameshift and truncation 1 Multiracial Rashid et al. [14]

Insertion

11 11 5302insA frameshift and truncation 1 Punjabi Liede et al. [22]
12 11 6679insAA frameshift and truncation 1 Punjabi Liede et al. [22]

Nonsense

Protein changed

13 11 3337C→T Gln to stop 2 Memon Liede et al. [22]
14 10 2083C > T, Q619X Gln to stop 1 Punjabi Rashid et al. [14]
15 11 3218T > G, L992X Leu to stop 1 Multiracial Rashid et al. [14]
16 11 5962G > T, E1912X Glu to stop 1 Multiracial Rashid et al. [14]