Table 2.
Clinical features of St. Petersburg patients recruited for search of mutations in the LDL receptor gene
| Patients ID | Sex | Age | TC, mg/dl | TG, mg/dl | LDLC, mg/dl | HDLC, mg/dl | Xanthomas/Corneal arcus | CHD | CI | Mutation name | All exons sequencing |
| 1 | F | 61 | 449 | 178 | 386 | 27 | + | + | + | V776M | - |
| 2 | F | 58 | 675 | 305 | 572 | 42 | + | + | - | T705I | - |
| 3 | M | 60 | 350 | 81 | 284 | 50 | + | + | - | FsV409: S423X | - |
| 4 | F | 49 | 326 | 203 | 248 | 37 | - | + | - | - | - |
| 5 | F | 36 | 414 | 201 | 321 | 53 | + | - | - | V806I | - |
| 6 | M | 68 | 404 | 192 | 333 | 33 | + | + | - | - | - |
| 7 | F | 76 | 522 | 161 | 444 | 46 | - | - | - | - | - |
| 8 | F | 54 | 446 | 165 | 353 | 60 | - | - | - | - | - |
| 9 | F | 52 | 500 | ND | ND | ND | - | + | + | - | - |
| 10 | F | 62 | 370 | 120 | 303 | 43 | + | - | - | C308Y | - |
| 11 | F | 66 | 359 | 141 | 300 | 31 | - | + | - | - | - |
| 12 | F | 66 | 486 | 296 | 391 | 36 | - | + | + | Q12X | - |
| 13 | F | 52 | 469 | 228 | 389 | 34 | + | + | - | IVS9+1G>A | - |
| 14 | F | 53 | 325 | 101 | 286 | 19 | - | + | + | - | - |
| 15 | F | 58 | 446 | 192 | 334 | 74 | - | + | - | FsK202: S205X | - |
| 16 | F | 38 | 398 | 260 | 314 | 32 | + | - | - | FsE291: N309X | - |
| 17 | M | 46 | 280 | 117 | 220 | 37 | - | + | + | - | - |
| 18 | F | 58 | 519 | 179 | 446 | 37 | - | + | - | G197del | - |
| 19 | F | 54 | 364 | 135 | 300 | 37 | + | + | + | FsE287: V348X | - |
| 20 | F | 53 | 204 | 233 | 135 | 23 | - | + | +++ | - | - |
| 21 | M | 61 | 350 | 116 | 280 | 47 | - | - | - | - | - |
| 22 | F | 48 | 369 | 221 | 290 | 35 | - | + | - | - | - |
| 23 | M | 48 | 417 | 190 | 353 | 30 | - | + | - | C249X | - |
| 24 | F | 45 | 299 | 122 | 229 | 46 | + | - | - | IVS3+1G>A | - |
| 25 | F | 50 | 353 | 101 | 295 | 38 | + | - | - | FsE414: M429X | - |
| 26 | F | 45 | 558 | 210 | 478 | 38 | + | + | + | - | - |
| 27 | M | 62 | 469 | 136 | 398 | 44 | + | + | ++ | G197del | + |
| 28 | F | 8 | 915 | 179 | 850 | 29 | + | - | - | - | + |
| 29 | F | 40 | 367 | 73 | 283 | 69 | - | + | - | W422X | + |
| 30 | F | 60 | 480 | 104 | 393 | 66 | - | - | - | - | + |
| 31 | M | 41 | 314 | 247 | 226 | 39 | - | + | + | - | + |
| 32 | M | 37 | 344 | 292 | 262 | 24 | + | + | + | - | + |
| 33 | F | 52 | 360 | 744 | 179 | 32 | + | + | + | - | + |
| 34 | M | 40 | 312 | 70 | 258 | 40 | + | + | ++ | - | + |
| 35 | M | 29 | 253 | 79 | 195 | 42 | - | - | - | E207X | + |
| 36 | M | 38 | 520 | 168 | 447 | 39 | + | + | + | D601N | + |
| 37 | F | 19 | 447 | 156 | 362 | 54 | - | - | - | L380H | + |
| 38 | F | 63 | 347 | 84 | 266 | 64 | + | + | + | C646S | + |
| 39 | F | 56 | 432 | 106 | 374 | 37 | + | + | - | W422X | + |
| 40 | M | 47 | 540 | 226 | 446 | 49 | + | + | + | IVS3+1G>A | + |
| 41 | F | 70 | 433 | 123 | 370 | 38 | - | + | + | - | + |
| 42 | M | 34 | 534 | ND | ND | ND | + | + | + | - | + |
| 43 | F | 52 | 654 | 115 | 573 | 58 | + | + | + | C308Y | + |
| 44 | M | 52 | 356 | 334 | 260 | 29 | - | + | + | - | + |
| 45 | M | 52 | 360 | 169 | 287 | 39 | + | + | + | FsV597: A622X | + |
Footnote: TC – total blood serum cholesterol, TG – triglycerides, LDLC – low density lipoprotein cholesterol, HDLC – high density lipoprotein cholesterol, CHD – coronary heart disease, CI – coronary infarction. Pluses in the CI column indicate number of CI survived. Minus in the right column indicates that the patient's LDL receptor gene was studied by high-sensitive fluorescent SSCP-analysis and not by frontal sequencing of all LDL receptor gene exons; the latter condition is indicated by plus.