Table 1.
List of heterozygous LDLRvariants by ethnicity and race:
| Ethnicity | n | Variants | Exon | |
|---|---|---|---|---|
|
| ||||
| Protein Alteration** | Nucleotide*** | |||
| African American | 1 | F11S* | 95C>T | 2 |
| 1 | D283N | 910G>A | 6 | |
| 1 | NA | Exon 7 deletion | 7 | |
| 1 | NA | IVS6-4G>A | – | |
| 1 | L435P* | 1367T>C | 10 | |
| 2 | C646R | 1999T>C | 14 | |
| 1 | P678L | 2096C>T | 14 | |
| Non-Hispanic White | 1 | NA | Promoter, exon 1 deletion | Promoter, 1 |
| 1 | NA | IVS4+1G>T | 4 | |
| 1 | D206fsX12 | 680_681delAC | 4 | |
| 1 | D245E | 798T>A | 5 | |
| 1 | Q324P* | 1034A>C | 7 | |
| 1 | V408M | 1285G>A | 9 | |
| 1 | G571E | 1775G>A | 12 | |
| 1 | NA | IVS16-2A>G | – | |
| Non-Hispanic White and Native American | ||||
| 2 | NA | IVS3+1G>A | – | |
| 1 | G457R | 1432G>A | 10 | |
| Hispanic | 1 | A29S | 148G>T | 2 |
| 1 | Exon 4,5,6 deletion | 4,5,6 | ||
| 1 | C176Y | 590G>A | 4 | |
| 1 | H190Y | 631C>T | 4 | |
| 1 | C331Y | 1055G>A | 7 | |
| 1 | D339H* | 1078G>C | 8 | |
| 1 | C343R | 1090T>C | 8 | |
| 1 | C347Y | 1103G>A | 8 | |
| 1 | Q427X | 1342C>T | 9 | |
| South East Asian (Bangladeshi) | 1 | V776M | 2389G>A | 16 |
| Middle Eastern (Lebanese) | 1 | C660X | 2043C>A | 14 |
NA denotes not available
*
Not present in University College London low density lipoprotein receptor familial hypercholesterolemia database (www.ucl.ac.uk/ldlr/LOVDv.1.1.0/)28
**
Note: Numbering system for exonic variations does not include 21 amino acids in the signal sequence (original amino acid number)
***
Mutation at DNA level. Nucleotide numbering is according to the genomic reference sequence (http://www.ucl.ac.uk/ldlr/LOVDv.1.1.0/refseq/LDLR_codingDNA.html) and includes the promoter region