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. 2014 Aug 15;7(9):6262–6269.

Table 2.

41 gene mutations detected in BRCA1 exon 10

Base change Codon encoded amino acid sites Protein change Mutation type* N cases Incidence % (N = 463)
1227th G > A 332 Arg→Gln M 2 0.4
1268th C > T 346 Pro→Ser M 1 0.2
1624th C > T 464 Thr→Thr S 4 0.8
1633th G > A 467 Lys→Lys S 1 0.2
2029th T > C 599 Asn→Asn S 1 0.2
2238th T > C 669 Met→Thr M 4 0.8
2309th G > A 693 Asp→Asn M 1 0.2
2798th T > C 856 Tyr→His M 8 1.7
2844th C > T 871 Pro→Leu M 3 0.6
3236th C > T 1002 Asn→Asp M 1 0.2
452th the beginning AGAAACA > TT 1083 Termination codon N 1 0.2
3589th T > A 1119 Thr→Thr S 1 0.2
3678th C > G 1149 Thr→Arg M 1 0.2
3709th A > G 1159 Ile→Met M 1 0.2
3971th G > A 1247 Val→Ile M 5 1.1
3986th C > G 1252 Leu→Val M 3 0.6
4030th C > G 1421 Ser→Arg M 1 0.2
4200th started missing AAAT 1334 Termination codon F 1 0.2
*

Mutation type: M missense mutation; S samesense mutation; N nonsense mutation; F frame-shifting mutation.