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