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. 2013 Nov 1;3(11):1927–1943. doi: 10.1534/g3.113.007906

Table 1. Mutations in nbs1 alleles.

Allele Mutation Location (bp) Effect on Protein
nbs1-1 A→G 1235 In intron splice site, early truncation after amino acid 400
nbs1-2 CC→TT 188–189 Serine → phenylalanine at amino acid 43
nbs1-3 C→T 2126 Early truncation after amino acid 570
nbs1-4 C→T 2126 Early truncation after amino acid 570
nbs1-5 GGCACT→GGTA-T 1072–1074 Early truncation after amino acid 288