Sequence analyses identified two consecutive point mutations in exon 3 of the ApoA1 gene of the BcA68 recombinant inbred strain: a G>T transition at the third position of codon 22 (TGG), producing a tryptophan to cysteine missense (W22C); and a C>T transition at position 1 of codon 23 (CAG), which replaces a glutamine by a stop (Q23Stop) (Figure 6C). The presence of these mutations predicts the synthesis of a truncated 22aa ApoA1 protein in the recombinant strain in place of the wild-type 264aa protein; however, no ApoA1 protein was detected in this strain. (J:191338)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count