Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia

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.