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. 2002 Jan;22(2):669–679. doi: 10.1128/MCB.22.2.669-679.2002

TABLE 4.

Types and locations of spontaneous mutations in the hprt gene of Brca2-deficient V-C8 cells

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
a

Del., deletion; ex., exon(s).