. 2012 Dec;130(6):e1575–e1582. doi: 10.1542/peds.2012-0918

TABLE 4.

Rare Mutations Identified Among Infants of African Descent

Gene	Mutations	RDS (n = 44)	Non-RDS (n = 196)	Missouri Population (n = 195)	ESP (n = 1869)
ABCA3	R20W				2
	V129M				12
	F245L				1
	R280C				1
	R280H				2
	R288K				7 (0.4%)^a
	E292V				4 (0.2%)^a
	F353L				3
	N555S				5
	G571R				1
	T574I	1	2
	P585S				1
	L707F				14
	G739A			2	15
	V968M			1	1
	F1164V		1
	N1418S				1
	R1474W	1			1
	A1660V				1
Infants with variant		2 (4.5%)^a	3 (1.5%)^a	3 (1.5%)^a	72 (3.9%)^a
SFTPC	R35C				1
	V39M				1
	G57S				1
	R81C				1
SFTPC allele (carrier) frequency					4 (0.2%)^a
CHPT1	G70R				2
	T87M				1
	G115A				1
	Y365H				3
CHPT1 allele (carrier) frequency					7 (0.4%)^a
LPCAT1	A194V				6
	L255Q				2
	D392H				1
	R526W				1
LPCAT1 allele (carrier) frequency					10 (0.5%)^a
PCYT1B	G199D				1 (0.05%)^a

Identified mutations are predicted to be damaging according to both SIFT and PolyPhen (accessed March 2012) or previous association with pediatric respiratory disease. Blank boxes indicate the mutations were not observed in that specific cohort.

Number (carrier frequency).