Summary of population findings by meltMADGE and followup sequencing in LDLR exon 3 and 8
LDLR | Cohort ID | No. of subjects | Nucleotide change | Amino acid change | Reference | Remarks |
|---|---|---|---|---|---|---|
| Exon 3 | BWHHS | 3600 | 291C→T | N76N (silent) | Not previously described | One subject. |
| At CpG site. | ||||||
| Hertfordshire | 2500 | 313+1G→A | Splice site | Hobbs et al. 1992 | Two subjects. | |
| At CpG site. | ||||||
| Known severe FH mutation. | ||||||
| Subject with highest cholesterol level within cohort. | ||||||
| SAS | 1500 | 313C→T | P84S | Vuorio et al. 1997 | One subject. | |
| At CpG site. | ||||||
| P84S is a known mild LDLR mutation. | ||||||
| Exon 8 | BWHHS | 3600 | 1061-8T→C | Intron 7–8 | Jensen et al. 1996 | 35 subjects. |
| 2/35 subjects above 99th percentile for cholesterol level. | ||||||
| 1078G→A | D335N | Not previously described | One subject. | |||
| At CpG site. | ||||||
| Subject above 95th percentile for cholesterol level. | ||||||
| 1186+11G→A | Intron 8+11 | Not previously described | One subject. | |||
| At CpG site. |