Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea

Table 2

Probably damaging rare mutations.

Locus	Gene	Base change	AA change	SIFT	PPT2	MutationTaster	PRO VEAN
Chr1：27874176	AHDC1	c.G4451A	p.G1484D	D	D	D	N
Chr1：27879416	AHDC1	c.-88C>T	UTR5	—	—	—	—
Chr1：27879407	AHDC1	c.-781C>G	UTR5	—	—	—	—

AA: amino acid; SIFT (D: deleterious, T: tolerated); PolyPhen-2 (i.e., PPT2) (D: probably damaging, P: possibly damaging, B: benign); MutationTaster and PROVEAN (D: disease-causing, N: polymorphism).