Mutations in the human SREBP-2 gene identified in 70 hypercholesterolaemic subjects. Three different single base pair substitutions were detected in the coding region of exons 5–10 of the human SREBP-2 gene in a total of 70 hypercholesterolaemic subjects
| Subject | Exon | Amino acid change | Wild type codon | Mutated codon | Protein domain | Age | Gender | TC (mmol/l) | TC adj (mmol/l ) | LDLC (mmol/l) | HDLC (mmol/l) | VLDLC (mmol/l ) | TG (mmol/l) | ApoE | CAD |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TC=total plasma cholesterol; TC adj=age and gender adjusted total plasma cholesterol; LDLC=low density lipoprotein cholesterol; HDLC=high density lipoprotein cholesterol; VLDLC=very low density lipoprotein cholesterol; TG=plasma triglycerides; CAD=coronary artery disease. | |||||||||||||||
| B0211 | 7 | P433P | ccc | cct | Translationally silent | 37 | M | 8.58 | 9.20 | 5.07 | 1.50 | – | 4.42 | 3/4 | Negative |
| B0022 | 10 | V623M | gtg | atg | Regulatory | 65 | F | 9.03 | 8.27 | 7.33 | 1.41 | 0.29 | 2.36 | 3/3 | Negative |
| B0083 | 10 | R645Q | cgg | cag | Regulatory | 49 | F | 10.04 | 10.32 | 8.28 | 1.41 | 0.35 | 1.35 | 3/3 | Negative |