Table 4.

nsSNPs in Human Steroid-Transforming AKR Genes (MAF >0.1%)

Cofactor Binding Residue	Steroid Substrate Binding Residue	AKR1B15	MAF	AKR1C1	MAF	AKR1C2	MAF	AKR1C3	MAF	AKR1C4	MAF	AKR1D1	MAF
T24	52	G54→S	0.004	K39→R	0.0046	F46→Ya	0.0649	H5→Q*a	0.42	G135→Ea	0.0270	N/A	N/A
D50	54	A95→T	0.001	T147→I	0.0022	A70→V	0.0034	E36→ns	0.24	S145→Ca	0.1028
S166	55	I103→V	0.003	R170→H	0.0028	D71→H	0.0026	I42→V	0.002	G181→V	0.0010
N167	86	F111→I	0.010	N280→Kb	0.0076	V122→I	0.0026	R47→H	0.002	A243→T	0.0084
Q190	117	K271→T	0.001	T323→ns		Q279→Hb	0.0010	I49→T	0.002	L311→Va	0.1024
Y216	118	T273→A	0.001			R258→Cc	0.064	E59→K	0.004
L219	120							R66→Q	0.023
S221	128							R76→G	0.004
R270	129							E77→Ga	0.037
S271	227							R91→ns	0.004
R276	306							P91→A	0.002
Q279	308							K104→Da	0.152
N280	310							L122→V	0.001
								C145→Y	0.005
								I163→T	0.004
								P180→Sc	0.086
								K183→Rc	0.026
								Q190→ns	0.024
								R199→Wc	0.004
								R199→Qc	0.004
								S208→L	0.001
								R250→Q	0.002
								R258→Cc	0.033
								P315→T	0.002

Other AKR1C2 alleles studied in DHT metabolism include: V38A (ND), V38I (0.0002; 0%), H47R (ND; 0%), S87C (ND), V111A (ND), H170R (not in NCBI), L172Q (ND), K179E (ND), K185E (ND), and R258C (ND).

Abbreviations: N/A, not available; ND, not determined; ns, not significant.

^aAmino acids examined for exemestane turnover.

^bAmino acids involved in cofactor binding.

^cEvolutionary conserved amino acids.