Table 1.
Description of LDLR variants, conservation and in silico predictions.
| Genetic name | HGVS Nomenclature | Conservation nt | Conservation AA | Grantham distance | Align GVGD | SIFT | PolyPhen-2 | MutationTaster 2 |
|---|---|---|---|---|---|---|---|---|
| c.977 C > G | p.(Ser326Cys) | 1.00 | 0.97 | 112 | C65 | Not tolerated | probably damaging (1) | Disease causing (prob: 1) |
| c.1013 G > T | p.(Cys338Phe) | 1.00 | 1.00 | 205 | C65 | Not tolerated | probably damaging (1) | Disease causing (prob: 1) |
| c.1103 G > A | p.(Cys368Tyr) | 1.00 | 1.00 | 194 | C65 | Not tolerated | probably damaging (1) | Disease causing (prob: 1) |
| c.1133 A > C | p.(Gln378Pro) | 1.00 | 0.24 | 76 | C25 | Not tolerated | benign (0.155) | Disease causing (prob: 0.994) |
| c.1195 G > A | p.(Ala399Thr) | 0.86 | 0.94 | 58 | C0 | Not tolerated | probably damaging (0.991) | Disease causing (prob: 0.996) |
| c.1238 C > T | p.(Thr413Met) | 0.94 | 0.89 | 81 | C15 | Not tolerated | probably damaging (1) | Disease causing (prob: 1) |
| c.1474 G > A | p.(Asp492Asn) | 1.00 | 1.00 | 23 | C0 | Not tolerated | probably damaging (1) | Disease causing (prob: 1) |
| c.1750T > C | p.(Ser584Pro) | 0.85 | 0.85 | 74 | C0 | Not tolerated | possibly damaging (0.953) | Disease causing (prob: 1) |
| c.1816G > T | p.(Ala606Ser) | 0.87 | 0.87 | 99 | C0 | Tolerated | benign (0.067) | Disease causing (prob: 0.999) |
| c.1865A > G | p.(Asp622Gly) | 1.00 | 1.00 | 94 | C65 | Not tolerated | probably damaging (1) | Disease causing (prob: 1) |
| c.1897C > T | p.(Arg633Cys) | 0.92 | 0.95 | 180 | C55 | Not tolerated | probably damaging (0.987) | Disease causing (prob: 1) |
| c.1966C > A | p.(His656Asn) | 1.00 | 1.00 | 68 | C65 | Not tolerated | possibly damaging (0.597) | Disease causing (prob: 1) |
| c.1976C > A | p.(Thr659Asn) | 0.72 | 0.69 | 65 | C0 | Tolerated | benign (0.003) | Polymorphism (prob: 0.997) |
| c.2093 G > A | p.(Cys698Tyr) | 1.00 | 1.00 | 194 | C65 | Not tolerated | probably damaging (0.998) | Disease causing (prob: 1) |
| c.2099 A > G | p.(Asp700Gly) | 1.00 | 1.00 | 94 | C0 | Tolerated | probably damaging (0.999) | Disease causing (prob: 1) |
| c.2119 G > T | p.(Asp707Tyr) | 1.00 | 0.97 | 160 | C65 | Not tolerated | probably damaging (1) | Disease causing (prob: 1) |