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Table 3 Individual patients with Category 1, 2 and 3 variants

From: Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvian population

Patient CAT Group Age Sex LDL-C level, mmol/L Gene ID AA PolyPhen-2 SIFT Mutation taster
4 1 POP 49 M 5,92 LDLR c.1706-10G > A - - N
16 1 POP 62 M 8,15 APOB p.(Arg3527Gln) D D/T D
  3      APOB p.(Glu2566Lys) B/D D/T N
33 1 CAD 82 M 4,80 LDLR p.(Gly20Arg) B D/T N
52 1 CAD 81 M 7,16 LDLR p.(Gly20Arg) B D/T N
62 1 POP 23 F 6,23 LDLR p.(Arg350*) - D D
73 1 POP 65 F 7,56 APOB p.(Arg3527Gln) D D/T D
  3      APOB p.(Glu2566Lys) B/D D/T N
  3      APOB p.(Val2095Glu) B D N
85 1 POP 57 F 6,65 APOB p.(Arg3527Gln) D D/T D
  3      APOB p.(Glu2566Lys) B/D D/T N
14 2 CAD 57 M 6,60 APOB p.(Arg1689His) D D D
25 2 CAD 58 F 5,90 APOB p.(Tyr144His) P D D
32 2 CAD 66 M 5,28 APOB p.(Ser3915Cys) P/D D D
123 2 POP 48 M 5,89 APOB p.(Arg1689His) D D D
11 3 CAD 73 M 5,10 APOB p.(Arg214Leu) P D/T N
12 3 CAD 62 M 6,06 APOB p.(Ser2429Thr) B T N
30 3 CAD 59 F 5,76 APOB p.(Ser2429Thr) B T N
42 3 POP 65 M 5,16 APOB p.(Val4265Ala) B D N
56 3 CAD 61 M 5,17 APOB p.(Met755Leu) B T N
90 3 POP 61 F 6,51 APOB p.(Ile4314Val) B D/T N
118 3 POP 58 F 5,95 LDLR c.2141-9 T > G - - D
  1. CAT – ours designated category of variant; M – male; F – female; LDL-C – low density lipoprotein cholesterol; AA – amino acid exchange (amino acid numbering according to Human Genome Variation Society [64]); D – probably damaging/damaging; P – possibly damaging; B – benign, T – tolerated; N – polymorphism