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Table 1 Human CYP variants used for the control set CS30

From: MutaCYP: Classification of missense mutations in human cytochromes P450

UniProt ID/Gene Mutation Disease Reference
O75881|CYP7B1 T297A Hereditary spastic paraplegia; Liver failure [29, 30]
A394D Hereditary spastic paraplegia; Liver failure [29, 30]
R417C Hereditary spastic paraplegia; Liver failure [29, 30]
F470I Hereditary spastic paraplegia; Liver failure [29, 30]
R486C Hereditary spastic paraplegia; Liver failure [29, 30]
P08686|CYP21A2 V139E Congenital adrenal hyperplasia [31]
T295N Congenital adrenal hyperplasia [31]
W302R Congenital adrenal hyperplasia [31]
L353R Congenital adrenal hyperplasia [31]
G375S Congenital adrenal hyperplasia [31]
F404S Congenital adrenal hyperplasia [31]
L446P Congenital adrenal hyperplasia [31]
T450P Congenital adrenal hyperplasia [31]
A265V Neutral [32]
P15538|CYP11B1 M88I Congenital adrenal hyperplasia [33]
W116G Congenital adrenal hyperplasia [33]
P159L Congenital adrenal hyperplasia [33]
A165D Congenital adrenal hyperplasia [33]
R366C Congenital adrenal hyperplasia [33]
R384Q Congenital adrenal hyperplasia [33]
T401A Congenital adrenal hyperplasia [33]
O15528|CYP27B1 G57V Pseudovitamin D-deficiency rickets [34]
G73W Pseudovitamin D-deficiency rickets [34]
L333F Pseudovitamin D-deficiency rickets [34]
R432C Pseudovitamin D-deficiency rickets [34]
R459C Pseudovitamin D-deficiency rickets [34]
R492W Pseudovitamin D-deficiency rickets [34]
G102E Vitamin D-dependent rickets type 1 [35]
P143L Pseudovitamin D-deficiency rickets [36]
D164N Pseudovitamin D-deficiency rickets [36]