Table 1

 Apolipoprotein B mutations identified

ExonMutationWTMTPos (bp)Predicted sizeFamily
Pos, position. The reference sequence used was NM_000384, with the A of the ATG translation initiation codon numbered nucleotide +1 and the methionine numbered as amino acid −27.
10R412X17CGATGA1315APOB-9SP809
11R463W18CGGTGG1468NASP810
131718delATATdelAT1718APOB-12SP807
172534delAAdelA2534APOB-18NL804
182783delCCdelC2783APOB-20NL826, NL827
25Q1309XCAATAA4006APOB-29NL808, NL822
26R2507XCGATGA7600APOB-55NL809, SP812
2611548delTTTTdelTT11548APOB-84NL825
2611712delC19CdelC11712APOB-86NL801, NL802, NL806