Skip to main content
. Author manuscript; available in PMC: 2009 Oct 22.
Published in final edited form as: Pediatr Pulmonol. 2008 May;43(5):443–450. doi: 10.1002/ppul.20782

Table II.

PHASE SFTPC Haplotypes in European American Population

Haplotype
Name 		Mutation Allele Frequency
A No graphic file with name nihms-151795-t0002.jpg 22/136
(16.2%)
B No 19/136
(14.0%)
C No 15/136
(11.0%)
D g.921 1/136
E g.1295 5/136
F g.1295 1/136
G g.1295 1/136
H g.1348 1/136
I g.1634 1/136
J g.1639 1/136
K g.2187 2/136
L g.2211
(C189G)		 1/136
M g.2211
(C189R)		 2/136

Most common and mutational haplotypes seen from 392 alleles. Haplotypes are constructed using SNP sites and family mutations: g.-3183, -2547, -2373, -2372, -1393, -1187, -107, 104, 498, 579, 752, 921, 980, 1295, 1348, 1634, 1639, 1723, 1893, 1975, 2074, 2187, 2203, 2211, 2426, 2443, 2569, 2619, 2620, and 2732 where g.+1 is transcription start site. The mutations are shaded. Haplotype “E” includes individuals from 2 separate families while Haplotype “I” was inherited from mother to child and Haplotype “M” from father to child each within a single family. “-”: variant is an insertion or deletion at the specified locus.