Table 2.
Newly reported mutations of the low density lipoprotein receptor gene in the Petrozavodsk familial hypercholesterolaemia sample.
| Exon/intron | Name of mutation according to genomic DNA LRG_274 | Name of mutation according to cDNA | Predicted change in protein amino acid sequence | Rapid method for testing | Number of families (number of patients) |
|---|---|---|---|---|---|
| Exon 3 | 18338 G>C | ∗с.245G>C |
p. (Cys82Ser) [=p.C61S] |
Loss of HpyCH4V site | 1 (1) |
|
| |||||
| Intron 3 | 18408 T>G | ∗c.313+2T>G (IVS3+2T>G) | — | New site for Hpy188I | 1 (1) |
|
| |||||
| Exon 9 | 28933 G>A | с.1222G>A |
p. (Glu408Lys) [=p.E387K] |
Loss of site for BssSI | 1 (2) |
| 29038 T>C | c.1327 T>C |
p. (Trp443Arg) [=p.W422R] |
New site for MspI | 1 (3) | |
|
| |||||
| Exon 13 | 35725 G>C | ∗с.1859 G>C |
p. (Trp620Ser) [=p.W599S] |
New site for TaqI | 1 (1) |
Note: items in brackets are names of mutations according to traditional nomenclature. This nomenclature does not count amino acids of the LDL receptor signal peptide but starts counting from the first amino acid of the mature receptor. Modern nomenclature starts counting from the first methionine of the signal peptide.
∗New mutation previously unreported anywhere in the world.