Haplotypes‡ (No) | |||||
---|---|---|---|---|---|
Mutation* | Sequence | Type† | Alleles (%) | This study | Ref 13 |
*Mutations that have not been previously reported. | |||||
†Mutations are classified as 0 (null), TM (missense mutation of transmembrane domain), 4L (missense mutation of 4th cytoplasmic loop), or CT (missense mutations of C-terminal domain).18 | |||||
‡DHCR7 haplotypes are as defined by Witsch-Baumgartner et al.13 The J haplotype has not been previously reported; positions c.189 (G), c.207 (C), c.231 (T), c.438 (C), c.969 (G), c.1158 (C), c.1272 (C), c.1350 (C). | |||||
IVS8-1G→C | g.9447G→C | 0 | 24 (40.0) | A (14) | A (13); E (1) |
R404C | c.1210C→T | 4L | 10 (16.7) | A (1); F (5) | B (1); D (1); F (3) |
T93M | c.278C→T | TM | 5 (8.3) | J (4) | A (1); E (2) |
W151X | c.453G→A | 0 | 3 (5.0) | C (2); F (2); G (3) | |
E448K | c.1342G→A | CT | 3 (3.0) | A (1) | |
R242C | c.724C→T | TM | 2 (3.3) | A (1) | |
V326L | c.976G→T | TM | 2 (3.3) | A (1) | A (5) |
P109L | c.326T→C | TM | 2 (3.3) | F (1) | |
L157P | c.470T→C | TM | 1 (1.7) | ||
W248R* | c.742T→C | TM | 1 (1.7) | ||
Y280C* | c.839A→G | TM | 1 (1.7) | A (1) | |
T289I | c.866C→T | TM | 1 (1.7) | A (1) | A (1) |
Y318N | c.952T→A | TM | 1 (1.7) | F (1) | |
R352W | c.1054C→T | TM | 1 (1.7) | A (1) | |
C380Y | c.1139G→A | 4L | 1 (1.7) | ||
Y408H | c.1222T→C | 4L/TM | 1 (1.7) | A (1) | |
Unknown | 1 (1.7) |