Application of DETECTER, an evolutionary genomic tool to analyze genetic variation, to the cystic fibrosis gene family

Table 2 Comparing tolerated amino acid replacement predictions using the DETECTER and SIFT approaches to the Cystic Fibrosis Mutation Database

Site	Residues	SIFT	D1	D2	Site	Residues	SIFT	D1	D2
85	E,V			X(V)	336	K
87	L	X	X	X	338	I			X
88	S				340	N
89	C				346	P
90	S			X	347	C,H,L,P
91	R				348	K
92	K				349	V			X
96	E			X	866	Y
98	P,R			T(R)	912	L	X	X	X
99	L			X	913	C
101	S			X	917	D,C
102	P				918	M
119	V	X	X	X	919	C
120	T,V			X(T,V)	920	L,M	X(L)		X(L)
125	T				922	L	X		X
126	D			X	924	N
132	M				927	P
137	H,R				932	S			X
198	P				991	V	X	X	X
199	Y,R,Q			X(Y)	993	Y
200	I			X	994	C
201	M				997	F			X
205	S,R			X(S)	1005	R
206	W,F				1006	E	X
209	S	X			1008	D
210	P				1009	T			X
213	V			X	1014	C
225	R				1021	A,S			X(A,S)
227	R				1028	R,I	X(I)	X(I)	X(I)
232	D				1032	C
237	E			X	1105	R
239	R	X	X	X	1118	C,F			X(F)
241	R				1129	G			X
309	T,D,G,V			X(T,G,V)	1130	A			X
311	L			X	1136	T			X
314	R,E,V			X(V)	1137	V,R			X(V)
316	L	X	X	X	1139	V			X
317	A			X	1140	K
320	V,F	X(V,F)		X(V,F)	1142	I			X
322	A			X	1147	I	X	X	X
327	R				1148	K	X
334	W,L,Q

D1 and D2 refer to CFTR MSD-only and ABC-homolog sequence analyses using the DETECTER approach. SIFT was applied to same dataset as in the D1 analysis.
Position numbers correspond to the human CFTR protein.
Residues listed are extracted from the Cystic Fibrosis Mutation Database.
X indicates that the predicted tolerated amino acid residue is found in the Cystic Fibrosis Mutation Database. Residues in parentheses indicate which predicted tolerated amino acid is referred to when a site hosts multiple missense mutations.

ISSN: 1471-2164