MutaCYP: Classification of missense mutations in human cytochromes P450

BMC Medical Genomics

Table 1 Human CYP variants used for the control set CS30

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]

ISSN: 1755-8794