CYP21A2 allele nomenclature

Allele	Nucleotide changes		Effect	Trivial_name	Clinical phenotype  (see footnote)	Activity in vitro  17OHP/prog	References____________
	Gene Numbering starts from A in the initiation codon.	cDNA Numbering starts from A in the initiation codon.
NORMAL VARIANTS:
CYP21A2*1A	None	None		wt 1	Normal		Higashi et al 1986
CYP21A2*1B	655C>A			wt 2	Normal		White et al 1986
CYP21A2*2	27_28insCTG	27_28insCTG	9_10insL		Normal	Normal	Rodrigues et al 1987 Higashi et al 1991
CYP21A2*3	683A>G	305G>A	K102R		Normal		Rodrigues et al 1987
CYP21A2*4	1121C>G	549C>G	D183E		Normal	Normal	Higashi et al 1991
CYP21A2*5	1645G>C	793G>C	S268T		Normal	Normal	Rodrigues et al 1987 Wu et al 1991 Tusie-Luna et al 1991
CYP21A2*6	2699A>G	1478G>A	N493S		Normal		Rodrigues et al 1987
GENE DELETION:
CYP21A2*7	30 kb deletion including 3' of CYP21A1P and 5' of CYP21A2	30 kb deletion including 3' of CYP21A1P and 5' of CYP21A2	A single, non-functional gene remains	CYP21A2 deletion	SW		White et al 1988
PSEUDOGENE-DERIVED MUTATIONS:
CYP21A2*8	89C>T	89C>T	P30L		NC	60%/30%	Tusie-Luna et al 1991
CYP21A2*9	655A/C>G		New splice acceptor	I2 splice	SW	Weak activity	Rodrigues et al 1987 Higashi et al 1991
CYP21A2*10	707_714delGAGACTAC	329_336delGAGACTAC	G110Frameshift	Del 8 bp E3	SW		Higashi et al 1988
CYP21A2*11	999T>A	515T>A	I172N		SV	<2%	Amor et al 1988 Tusie-Luna et al 1990
CYP21A2*12	1380T>A	707T>A	I236N			1%/2.4%	Higashi et al 1988 Robins et al 2005
CYP21A2*13	1383T>A	710T>A	V237E			0%/0.1%	Higashi et al 1988 Robins et al 2005
CYP21A2*14	1389T>A	716T>A	M239K			95%/98%	Higashi et al 1988 Robins et al 2005
CYP21A2*15	1683G>T	841G>T	V281L		NC	50%/20%	Speiser et al 1988 Tusie-Luna et al 1990
CYP21A2*16	1762_1763insT	920_921insT	L307Frameshift		SW		Higashi et al 1988
CYP21A2*17	1994C>T	952C>T	Q318Stop		SW		Globerman et al 1988
CYP21A2*18	2108C>T	1066C>T	R356W		SW	No activity	Chiou et al 1990
CYP21A2*19	2578C>T	1357C>T	P453S		NC	50-68%/20-46%	Owerbach et al 1992 Helmberg et al 1992 Nikoshkov et al 1997
COMBINATIONS OF PSEUDOGENE-DERIVED MUTATIONS:
CYP21A2*20A	1380T>A; 1383T>A; 1389T>A	707T>A; 710T>A; 716T>A	I236N; V237E ; M239K	Cluster E6	SW	No activity	Higashi et al 1988
CYP21A2*20B	-126C>T; -113G>A; -110T>C; -103A>G; 89C>T; 655A/C>G; 706_713delGAGACTAC; exact extension not defined	-126C>T; -113G>A; -110T>C; -103A>G; 89C>T; 328_335delGAGACTAC; exact extension not defined	CYP21A2 converted to CYP21A1P in the 5' part, extending beyond the 8 bp del in exon 3	Large gene conversion (5')	SW		Donohoue et al 1986 White et al 1988 Higashi et al 1988
CYP21A2*20C	-126C>T; -113G>A; -110T>C; -103A>G; 89C>T; 655A/C>G; 706_713delGAGACTAC; 999T>A; 1380T>A; 1383T>A; 1389T>A; 1683G>T; 1762_1763insT	-126C>T; -113G>A; -110T>C; -103A>G; 89C>T; 328_335delGAGACTAC; 515T>A; 707T>A; 710T>A; 716T>A; 841G>T; 920_921insT	CYP21A2 converted to CYP21A1P in the 5' part, extending beyond the 8 bp del in exon 3	Large gene conversion (5')	SW		Higashi et al 1988
CYP21A2*20D	-126C>T; -113G>A; -110T>C; -103A>G	-126C>T; -113G>A; -110T>C; -103A>G	Reduced expression	Promotor conversion	NC?  normal?	20% gene expression	Bristow et al 1993 Chang et al 1995
CYP21A2*20E	655A/C>G; 1683G>T	841G>T	I2 splice; V281L		SW		Wedell et al 1994
CYP21A2*20F	999T>A; 1380T>A; 1383T>A; 1389T>A; 1683G>T; 1762_1763insT	515T>A; 707T>A; 710T>A; 716T>A; 841G>T; 920_921insT	I172N ; I236N; V237E ; M239K; V281L; L307Frameshift		SW		Wedell et al 1994
CYP21A2*20G	1380T>A; 1383T>A; 1389T>A; 1683G>T	707T>A; 710T>A; 716T>A; 841G>T	I236N; V237E ; M239K; V281L		SW		Wedell et al 1994
CYP21A2*20H	1762_1763insT ; 1994C>T	920_921insT; 952C>T	L307Frameshift; Q318Stop		SW		Wedell et al 1994
CYP21A2*20J	1994C>T; 2108C>T	952C>T; 1066C>T	Q318Stop; R356W		SW		Wedell et al 1994
CYP21A2*20K	-126C>T; -113G>A; -110T>C; -103A>G; 89C>T; 655A/C>G; 706_713delGAGACTAC	-126C>T; -113G>A; -110T>C; -103A>G; 89C>T; 328_335delGAGACTAC	CYP21A2 converted to CYP21A1P in the 5' part, extending beyond the 8 bp del in exon 3	Large gene conversion (5')	SW		Levo et al 1997
CYP21A2*20L	999T>A; 1380T>A; 1383T>A; 1389T>A; 1683G>T; 1762_1763insT ; 1994C>T; 2108C>T	515T>A; 707T>A; 710T>A; 716T>A; 841G>T; 920_921insT; 952C>T; 1066C>T	I172N ; I236N; V237E ; M239K; V281L; L307Frameshift; Q318Stop; R356W	Large gene conversion (3')	SW		Levo et al 1997
CYP21A2*20M	999T>A; 2578C>T	515T>A; 1357C>T	I172N; P453S		SV		Levo et al 1997
CYP21A2*20N	655A/C>G; 999T>A	515T>A	I2 splice; I172N		SW		Wedell 1998
CYP21A2*20P	1683G>T; 1762_1763insT	841G>T; 920_921insT	V281L; L307Frameshift		SW		Wedell 1998
CYP21A2*20Q	1683G>T; 1994C>T; 2108C>T	841G>T; 952C>T; 1066C>T	V281L; Q318Stop; R356W		SW		Ohlsson et al 1999
CYP21A2*20R	-126C>T; -113G>A; -110T>C; -103A>G; 89C>T	-126C>T; -113G>A; -110T>C; -103A>G; 89C>T	Promotor conversion; P30L		NC-SV		L'Allemand et al 2000
CYP21A2*20S	-126C>T; -113G>A; -110T>C; -103A>G; 89C>T; 655A/C>G	-126C>T; -113G>A; -110T>C; -103A>G; 89C>T	Promotor conversion; P30L; I2 splice		SW		Dolzan et al 2003
CYP21A2*20T	655A/C>G; 1380T>A; 1383T>A; 1389T>A; 1683G>T; 1994C>T	707T>A; 710T>A; 716T>A; 841G>T; 952C>T	I2 splice; I236N; V237E ; M239K; V281L; Q318Stop		SW		Dolzan et al 2003
CYP21A2*20U	1683G>T; 1762_1763insT ; 1994C>T; 2108C>T	841G>T; 920_921insT; 952C>T; 1066C>T	V281L; L307Frameshift; Q318Stop; R356W		SW		Koppens et al 2000 Stikkelbroeck et al 2003
CYP21A2*20V	1380T>A; 1383T>A; 1389T>A; 1683G>T; 1762_1763insT ; 1994C>T; 2108C>T	707T>A; 710T>A; 716T>A; 841G>T; 920_921insT; 952C>T; 1066C>T	I236N; V237E ; M239K; V281L; L307Frameshift; Q318Stop; R356W		SW		Kharrat et al 2004
CYP21A2*9 + CYP21A2*17	655A/C>G; 1994C>T	952C>T	I2 splice; Q318Stop		SW		Wedell et al 1994
RARE MUTATIONS AND COMBINATIONS:
CYP21A2*21	1203G>C	631G>C	V211L		normal?		Speiser et al 1988
CYP21A2*22	692C>T; 2578C>T	314C>T; 1357C>T	P105L; P453S		NC	10%/7%	Wedell et al 1992 Nikoshkov et al 1997
CYP21A2*23	1713G>A	871G>A	G291S		SW	0.8%/0.8%	Wedell et al 1992  Nikoshkov et al 1998
CYP21A2*24	2058G>A; 2578C>T	1016G>A; 1357C>T	R339H; P453S		NC		Helmberg et al 1992
CYP21A2*25	2668_2669delGGinsC	1447_1448delGGinsC	R483Frameshift		SW		Wedell et al 1992
CYP21A2*26	1779G>C		Disrupted splice donor intron 7		SW		Wedell et al 1993
CYP21A2*27	2339G>A	1214G>A	W405X		SW		Wedell et al 1993
CYP21A2*28	2669G>C	1448G>C	R483P			1.0/2.2%	Wedell et al 1993 Nikoshkov et al 1998
CYP21A2*29	2063C>T	1021C>T	R341W				Gunn et al 1993
CYP21A2*30	66G>A	66G>A	W22X		SW		Lajic et al 1996
CYP21A2*31	295A>G		Disruption splice acceptor intron 1		SW		Lajic et al 1996
CYP21A2*32	1748G>A	906G>A	W302X		SW		Levo et al 1997
CYP21A2*33	2109G>C	1067G>C	R356P		SW	0.15/0.15%	Lajic et al 1997
CYP21A2*34	2109G>A	1067G>A	R356Q		SV	0.65%/1.1%	Lajic et al 1997
CYP21A2*35	2265G>C	1140G>C	E380D		SW?	30%	Kirby-Keyser et al 1997 Hsu et al 1999
CYP21A2*36	669C>A	291C>A	Y97X		SW		Krone et al 1998
CYP21A2*37	989_990delTGinsA	505_506delTGinsA	C169Frameshift		SW		Witchel et al 1999
CYP21A2*38	1159_1161delAGG	587_589delAGG	E196del			6%/23%	Nikoshkov et al 1998
CYP21A2*39	387G>A		Disrupted splice donor intron 2		SW		Lee et al 1998
CYP21A2*40	1988C>T	946C>T	R316X		SW		Lee et al 1998
CYP21A2*41	2030_2039delTCCAGCTCCC	988_997delTCCAGCTCCC	S330Frameshift	Del 10 bp E8	SW		Lee et al 1998
CYP21A2*42	2316_2331dupCCTGGATGAGACGGTC	1175_1190dupCCTGGATGAGACGGTC	V397Frameshift	Dupl 16 bp E9	SW		Lee et al 1998
CYP21A2*43	1780T>G		Disrupted splice donor intron 7		SW		Ordonez-Sánchez et al 1998
CYP21A2*44	2647delT	1426delT	P475Frameshift				Ordonez-Sánchez et al 1998
CYP21A2*45	89C>A	89C>A	P30Q		SW	0.2%/0%	Lajic et al 1999
CYP21A2*46	141delT	141delT	L48Frameshift		SW		Krone et al 1999
CYP21A2*47	191G>A	191G>A	G64E		SW	No activity	Ohlsson et al 1999
CYP21A2*48	1626C>T	784C>T	Q262X		SW		Ohlsson et al 1999
CYP21A2*49	2127C>T	1185C>T	A362V		SW	No activity	Ohlsson et al 1999
CYP21A2*50	317A>T	220A>T	K74X		SW		Nunez et al 1999
CYP21A2*51	366G>T	268G>T	G90V		SW	No activity	Lobato et al 1999 Nunez et al 1999
CYP21A2*52	1016G>C	533G>C	G178A			19%/0%	Lobato et al 1999 Nunez et al 1999
CYP21A2*53	1713G>T	871G>T	G291C		SW	No activity	Lobato et al 1999 Nunez et al 1999
CYP21A2*54	2103G>A	1061G>A	R354H		SW	No activity	Lobato et al 1999 Nunez et al 1999
CYP21A2*55	2494G>A	1270G>A	G424S		SV	1.6%/2%	Billerbeck et al 1999 Tardy et al 2010
CYP21A2*56	655A/C>G; 2494G>A	1270G>A	I2 splice; G424S				Billerbeck et al 1999
CYP21A2*57	1684T>G	842T>G	V281G		SV	3.9%/3.9%	Krone et al 2000 Lajic et al 2001
CYP21A2*58	1740C>T	898C>T	L300F		SV	9.5%/4.4%	Krone et al 2000 Lajic et al 2001
CYP21A2*59	2102C>T	1060C>T	R354C		SW		Krone et al 2000
CYP21A2*60	996T>A	512T>A	I171N			0.7%/0.6%	Balsamo et al 2000 Barbaro et al 2006
CYP21A2*61	2665C>T	1444C>T	P482S		NC	70%/72%	Balsamo et al 2000 Barbaro et al 2004
CYP21A2*62	82_83insC	82_83insC	H28Frameshift		SW		Lau et al 2001
CYP21A2*63	62_172dup111	62_172dup111	21_57dup37	Dup 111bp Ex 1	SV		Loke et al 2001
CYP21A2*64	1624T>C	782T>C	L261P		SW		Loke et al 2001
CYP21A2*65	1981C>A	949C>A	L317M		NC		Deneux et al 2001
CYP21A2*66	2130T>G	1088T>G	L363W		SV		Levo et al 2001
CYP21A2*67	2524C>T	1303C>T	R435C		NC		Deneux et al 2001
CYP21A2*68	666A>G		Disrupted splice acceptor intron 2		SW		Billerbeck et al 2002
CYP21A2*69	992_993insA	508_509insA	S170Frameshift		SW		Billerbeck et al 2002
CYP21A2*70	1579delA	737delA	E246Frameshift		SW		Koyama et al 2002
CYP21A2*71	1752G>A	910G>A	V304M		NC	46%/26%	Lajic et al 2002
CYP21A2*72	2248G>A	1123G>A	G375S		SW	<1%/<1%	Lajic et al 2002
CYP21A2*73	2453C>T	1222C>T	R408C		SW	1.3%/0.6%	Billerbeck et al 2002 Soardi et al 2008
CYP21A2*74	-126C>T; -113G>A; -110T>C; -103A>G; 43G>A; 89C>T	-126C>T; -113G>A; -110T>C; -103A>G; 43G>A; 89C>T	Promotor conversion; A15T; P30L		SV		Dolzan et al 2003
CYP21A2*75	89C>T; 185A>T	89C>T; 185A>T	P30L; H62L		NC		Pinto et al 2003
CYP21A2*76	1121delC	549delC	D183Frameshift		SW		Stikkelbroeck et al 2003
CYP21A2*77	1713G>C	871G>C	G291R				Stikkelbroeck et al 2003
CYP21A2*78	1744C>A	902C>A	S301Y		NC		Stikkelbroeck et al 2003
CYP21A2*79	2064G>C	1022G>C	R341P		NC/SV	0.7%/0.7%	Pinto et al 2003 Barbaro et al 2006
CYP21A2*80	2253C>A	1128C>A	Y376X		SW		Stikkelbroeck et al 2003
CYP21A2*81	2669G>A	1448G>A	R483Q		NC	1.1%/3.8%	Stikkelbroeck et al 2003 Robins et al 2006
CYP21A2*82	2498G>A	1277G>A	R426H		SV-SW	0.5%/0.4%	Baumgartner-Parzer et al 2001 Barbaro et al 2006
CYP21A2*83	3G>A	3G>A	M1I		SW		Usui et al 2003
CYP21A2*84	749G>A	371G>A	R124H		NC		Usui et al 2003
CYP21A2*85	56G>A	56G>A	W19X		SW		Kharrat et al 2004
CYP21A2*86	2668_2669insC	1447_1448insC	R483Frameshift		SW		Kharrat et al 2004
CYP21A2*87	2668C>T	1447C>T	R483W		SW		Kharrat et al 2004
CYP21A2*88	1208_1209insT	636_637insT	P213Frameshift		SW		Usui et al 2004
CYP21A2*89	64_65insT	64_65insT	W22Frameshift		SW		Ezquieta et al 1999
CYP21A2*90	1355C>T	682C>T	Q228X		SW		Ezquieta et al 2002a
CYP21A2*91	185A>T	185A>T	H62L		NC	44.5%/20.7%	Ezquieta et al 2002b Soardi et al 2008
CYP21A2*92	1689A>C	847A>C	M283L		NC		Ezquieta et al 2002b
CYP21A2*93							Withdrawn
CYP21A2*94	327T>C	230T>C	I77T		SV	3%/5%	Krone et al 2005a
CYP21A2*95	2522C>T	1301C>T	A434V		SV	14%/12%	Krone et al 2005a
CYP21A2*96	2093G>A	1051G>A	E351K		SV	1.1%/1.2%	Krone et al 2005b
CYP21A2*97	126_127delC	126_127delC	P42Frameshift				Zeng et al 2004
CYP21A2*98	992_993insA	508_509insA	S170Frameshift				Zeng et al 2004
CYP21A2*99	2135C>T	1093C>T	H365Y				Zeng et al 2004
CYP21A2*100	2657G>T	1436G>T	R479L			76%/80%	Zeng et al 2004 Robins et al 2006
CYP21A2*101	1762_1763insT	920_921insT	L307Frameshift		SW		Ezquieta et al 2002a
CYP21A2*102	81_93delCACCTCCCGCCTC	81_93delCACCTCCCGCCTC	H28Frameshift		SW		Kharrat et al 2005
CYP21A2*103	2663C>T; 2665C>T	1442A>C; 1444C>T	Q481P; P482S		SW		Di Pasquale et al 2005
CYP21A2*104	1985C>T	943C>T	Q315X				Dolzan et al 2005
CYP21A2*105	1380T>A; 1383T>A; 1389T>A; 2551C>T	707T>A; 710T>A; 716T>A; 1330C>T	I236N; V237E; M239K; R444X	Cluster E6; R444X	SW		Friaes et al 2006
CYP21A2*106	2558T>C	1337T>C	L446P		SV-SW	0.5%/0.0%	Barbaro et al 2006
CYP21A2*107	989T>C	505T>C	C169R		SV	0.1/%0%	Grischuk et al 2006
CYP21A2*108	1016G>A	532G>A	G178R			0.4%/0%	Grischuk et al 2006
CYP21A2*109	1746T>C	904T>C	W302R		SW	0.1%/0%	Grischuk et al 2006
CYP21A2*110	2497C>T	1276C>T	R426C			0%/0%	Grischuk et al 2006
CYP21A2*111	794T>A	416T>A	V139E		SW		Robins et al 2006
CYP21A2*112	817T>C	439T>C	C147R		NC/SV		Robins et al 2006
CYP21A2*113	1380A>G	697A>G	R233G		NC		Robins et al 2006
CYP21A2*114	1726C>A	884C>A	T295N		SV/SW		Robins et al 2006
CYP21A2*115	1764C>T	922C>T	L308F		SV		Robins et al 2006
CYP21A2*116	2138C>T	1096C>T	R366C				Robins et al 2006
CYP21A2*117	2640G>T	1419G>T	M473I		N/NC		Robins et al 2006
CYP21A2*118	981T>C	497T>C	L166P			0.3%/0.4%	Robins et al 2006
CYP21A2*119	2296G>A	1171G>A	A391T			38%/23%	Robins et al 2006
CYP21A2*120	1683G>C	841G>C	V281L				Barbat et al 1995
CYP21A2*121	1762delT	920delT	L307frameshift				Ezquieta et al 2002
CYP21A2*122	1981C>G	949C>G	L317V		NC		Bojunga et al 2005
CYP21A2*123	82_94delCACCTCCCGCCTC	82_94delCACCTCCCGCCTC	H28frameshift	del 13 bp E1	SW		Kharrat et al 2005
CYP21A2*124	2050C>G	1008C>G	Y336X				Bernal González et al 2006
CYP21A2*125	2452G>A	1291G>A	E431K				Dain et al 2006
CYP21A2*126	391G>A; 1683 G>T		Disrupted splice donor intron 2; V281L	IVS2 +5 G>A; V281L	SW		Friães et al 2006
CYP21A2*127	962_963insA	478_479insA	I160framenshift		SW		Janner et al 2006
CYP21A2*128	1353_1354insA	680_681insA	K227frameshift		SW		Krone et al 2006
CYP21A2*129	2551C>T	1330C>T	R444X		SW		Krone et al 2006 Loidi et al 2006
CYP21A2*130	2609C>T	1388C>T	P463L		SV	2.6%/3.0%	Krone et al 2006 Loidi et al 2006
CYP21A2*131	135_136insC	135_136insC	I46frameshift				Loidi et al 2006
CYP21A2*132	2638_2658duplATGCAGCCTTTCCAAGTGCGG	1417_1437duplATGCAGCCTTTCCAAGTGCGG	M473_R479dup	dup 21 bp E10	SV		Loidi et al 2006
CYP21A2*133	1747G>C	905G>C	W302S		SV	3%/3%	Loidi et al 2006 Bleicken et al 2008
CYP21A2*134	2007A>G	965A>G	D322G			18%/27%	Loidi et al 2006 Bleicken et al 2008
CYP21A2*135	113A>T	113A>T	H38L				Tardy et al 2006
CYP21A2*136	2336T>C	1211T>C	F404S		SW		Baradaran-Heravi et al 2007
CYP21A2*137	2569A>C	1348A>C	T450P		SW		Baradaran-Heravi et al 2007
CYP21A2*138	19_28delCTGCTGCTGC	19_28delCTGCTGCTGC	L48X		CL		Baradaran-Heravi et al 2007
CYP21A2*139	1343C>T	670C>T	R224W		NC	52%/45.6%	Concolino et al 2007 Concolino et al 2009
CYP21A2*140	65G>A	65G>A	W22X		SW		Di Pasquale et al 2007
CYP21A2*141	1A>G	1A>G	M1V		CL	nd	Tardy et al 2007a
CYP21A2*142	1A>C	1A>C	M1L			nd	Tardy et al 2007b
CYP21A2*143	175T>A	175T>A	Y59N		CL	nd	Tardy et al 2007c
CYP21A2*144	140A>G	140A>G	Y47C			nd	Tardy et al 2007d
CYP21A2*145	2597C>A	1376C>A	P459H			nd	Wang et al 2007
CYP21A2*146	1683G>T; 2100T>G	841G>T;1058T>G	V281L; L353R		SW	nd	Abid et al 2008
CYP21A2*147	1636C>T	794C>T	A265V			92%/100%	Bleicken et al 2008
CYP21A2*148	1778G>A	1219G>A	D407N		NC	72.7%/73.6%	Capoluongo et al 2008a Concolino et al 2009a
CYP21A2*149	734A>G	356A>G	H119R		NC	31,6%/31,5%	Capoluongo et al 2008b Capoluongo et al 2008c Concolino et al 2009b
CYP21A2*150	1153T>A	581T>A	I194N			33.2%/46.7%	Capoluongo et al 2008d Concolino et al 2009b
CYP21A2*151	739A>C	361A>C	K121Q			14%/19.5%	Riepe et al 2008
CYP21A2*152	166G>A	166G>A	G56R		CL	0.7%/1.4%	Soardi et al 2008
CYP21A2*153	696T>G	320T>G	L107R		CL	0.4%/0.3%	Soardi et al 2008
CYP21A2*154	803T>C	425T>C	L142P		SW	0.4%/0.4%	Soardi et al 2008
CYP21A2*155	185A>T;2578C>T	185A>T;1357C>T	H62L; P453S		SV	4.1%/2.3%	Soardi et al 2008
CYP21A2*156	57G>A	57G>A	W19X				Bidet et al 2009
CYP21A2*157	2599_2616delTCGCTGCAGCCCCTGCCC	1378_1395delTCGCTGCAGCCCCTGCCC	S460_P465del	del 18 bp E10			Bidet et al 2009
CYP21A2*158	160A>T	160A>T	K54X		SW		Concolino et al 2009c
CYP21A2*159	298_306dupTGTGGTGGT	201_209dupTGTGGTGGT	61_70 dup	dup 9 bp in E2	CL		Dubey et al 2009
CYP21A2*160	707_714delGAGACTAC; 1752G>A	329_336delGAGACTAC;910G>A	G110frameshift; V304M	del8 bp E3+V304M			Neocleous et al 2009
CYP21A2*161	1683G>T; 1762_1763insT	841G>T; 920_921insT	V281L; L307frameshift		SW		Neocleous et al 2009
CYP21A2*162	2286C>G	1161C>G	N387K				Wasniewska et al 2009
CYP21A2*163	2516C>T	1295C>T	P432L				Carvalho et al 2010, in press
CYP21A2*164	1588T>C	746T>C	V249A				Concolino et al 2010
CYP21A2*165	772C>T	394C>T	R132C				Minutolo et al 2011
CYP21A2*166	929C>T	445C>T	R149C				Minutolo et al 2011
CYP21A2*167	1689A>G	847A>G	M283V		NC		Minutolo et al 2011
CYP21A2*168	2007A>G;2452G>A	965A>G;1291G>A	D332G; E431K				Minutolo et al 2011
CYP21A2*169	2509_2010delGG	1409_1410delGG	G470frameshift		SW		Minutolo et al 2011
CYP21A2*170	984T>C	500T>C	L167P		SW	0.7%/0.4%	Tardy et al 2010
CYP21A2*171	1717G>A	875G>A	G292D		SW	0.5%/0.7%	Tardy et al 2010
CYP21A2*172	2000G>A	959G>A	E320K		CL	4.6%/4.5%	Tardy et al 2010
CYP21A2*173	1371G>A	698G>A	R233K			15%/8.1%	Tardy et al 2010
CYP21A2*174	1347C>T	1105C>T	R369W		NC	45.8%/48.5%	Tardy et al 2010
CYP21A2*175	1362T>C	689T>C	I230T		NC	63.1%/70.6%	Tardy et al 2010
CYP21A2*176	1362T>C; 1683G>T	689T>C;841G>T	I230T; V281L		NC	9.4%/8.5%	Tardy et al 2010
CYP21A2*177	987C>A	503C>A	T168N		NC		Vrzalova et al 2010
CYP21A2*178	991C>A	507C>A	S169X		SW		Vrzalova et al 2010
CYP21A2*179	2596C>T	1375C>T	P459S		SV		Vrzalova et al 2010
CYP21A2*180	2282C>G	1157C>G	P386R		SW		Vrzalova et al 2010
CYP21A2*181	2454G>T	1223G>T	R408L		CL		Yu et al 2010

Thanks to Anna Wedell, Michela Barbaro and Svetlana Lajic for their help with the CYP21A2 web page.

Changes made since the last update (13-Nov-2007) are marked in red.

Links to the NCBI dbSNP homepage are available for functional SNPs when present in NCBI's database.

Footnote:
SW, salt-wasting CAH; SV, simple-virilizing CAH; NC, non-classic CAH.
The phenotype most often associated with an allele is given (when known), although variability occurs in individual cases, especially for partially inactivating mutations. References on mutation frequencies in different populations and genotype-phenotype relationships: Higashi et al 1991; Mornet et al 1991; Speiser et al 1992; Wedell et al 1994; Ezquieta et al 1995; Wilson et al 1995; Carrera et al 1996; Jääskeläinen et al 1997; Bachega et al 1998; Fardella et al 1998; Ordonez-Sánchez et al 1998; Krone et al 2000; White et al 2000; Dracopoulou-Vabouli et al 2001; Stikkelbroeck et al 2003.

SwissProt OMIM GeneCards

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