Table 2.
NS sequence variations in NPC1L1 in Dallas Heart Study participants with low or high Ca:L ratios
| Low Ca:L Ratio |
High Ca:L Ratio |
||||||||
|---|---|---|---|---|---|---|---|---|---|
| Nucleotide | Amino acid | n | Ethnicity | Frequency | Nucleotide | Amino acid | n | Ethnicity | Frequency |
| Group 1 | |||||||||
| c.182C>T | T61M | 2 | AA | 0.007 | c.521G>A | R174H | 1 | W | 0.0003 |
| c.395A>G | N132S | 1 | AA | 0.004 | c.848G>A | G283D | 1 | AA | ND |
| c.916C>T | R306C | 2 | AA | 0.006 | c.3698T>A | I1233N | 1 | W | 0.001 |
| c.1193A>G | D398G | 1 | AA | 0.0003 | |||||
| c.1249C>T | R417W | 1 | W | 0.001 | |||||
| c.1300G>A | G434R | 1 | AA | 0.0005 | |||||
| c.1496C>T | T499M | 2 | both | 0.0008 | |||||
| c.1859C>G | S620C | 1 | AA | 0.0005 | |||||
| c.1940T>A | I647N | 1 | AA | 0.006 | |||||
| c.2077C>T | R693C | 1 | AA | 0.004 | |||||
| c.2642C>T | S881L | 1 | AA | 0.0005 | |||||
| c.3042G>A | W1014X | 1 | AA | 0.0008 | |||||
| c.3322C>T | R1108W | 1 | AA | 0.0005 | |||||
| Group 2 | |||||||||
| c.328C>T | L110F | 1 | AA | 0.001 | c.731A>G | N244S | 1 | AA | 0.002 |
| c.916C>T | R306C* | 1 | W | 0.006 | c.845C>T | P282L | 1 | W | 0.0003 |
| c.1184C>T | A395V | 1 | AA | 0.002 | |||||
| c.1204G>A | G402S | 1 | AA | 0.0005 | |||||
| c.1238C>T | T413M | 1 | AA | 0.0005 | |||||
| c.1940T>A | I647N* | 1 | AA | 0.006 | |||||
| c.2014G>A | G672R | 1 | AA | 0.0003 | |||||
| c.2077C>T | R693C* | 1 | AA | 0.004 | |||||
| c.3641G>A | R1214H | 1 | W | ND | |||||
| c.3803G>A | R1268H | 1 | AA | 0.0003 | |||||
n is the number of carriers identified in the 128 individuals sequenced in the low absorbers or in the high absorbers in Group 1 or Group 2. Frequency is the allele frequency in 1,831 African-American men and women in the Dallas Heart Study. ND, not determined because of assay failure; AA, African-American; W, white.
*Also found in group 1.