Table 1.

All reported (n=19) different human GNRHR mutant alleles to date are shown, including mutation location in the gene and protein, the number of times the allele has been reported, and the effects upon binding and IP₃ signaling.

Missense Mutations
No.	Author	Exon	Allele	n	Protein	Binding	IP3 Signaling	Other
1	[23]	1	Asn10Lys	1	ECD	↓	↓
2	[33]	1	Asn10Lys+Gln11Lys	1	ECD	↓	↓
3	[21, 29]	1	Thr32lle	1	ECD	↓	↓
4	[20, 25]	1	Glu90Lys	2	TMD2	↓	↓
5	[1, 17, 21-24]	1	Gln106Arg	13	ECL1	↓	↓
6	[14, 26]	1	Ala129Asp	2	TMD3	↓	↓
7	[23, 31]	1	Arg139His	4	TMD3/ICL2	Absent	↓	↓ receptor #
8	[34]	1	Arg139Cys	2	TMD3/ICL2	Normal	↓
9	[16]	1	Ser168Arg	2	TMD4	↓	↓
10	[32]	1	Ala171Thr	1	TMD4	Absent	↓
11	[21, 29]	2	Cys200Tyr	1	ECL2	↓	↓
12	[15]	2	Gln106Arg/Ser217Arg	1	ECL1/TMD5	↓	↓
13	[1, 2, 14, 17, 21, 26, 35]	3	Arg262Gln	8	ICL3	Normal	↓
14	[21, 29]	3	Leu266Arg	2	ICL3	↓	↓
15	[21, 29]	3	Cys279Tyr	2	TMD6	↓	↓
16	[2]	3	Tyr284Cys	1	TMD7	Normal	↓
17	[33]	3	Pro320Leu	1	TMD7	Absent	↓
Other Mutations
18	[27]	IVS1	IVS1-1G→A	2	Exon2 skip	ND	ND
19	[18]	3	Leu314X	1	TMD7	↓	↓
Other Reported Alleles Not Studied In Vitro
20	[37]	1	Leu83Val	1		ND	ND
21	[37]	1	Pro96Ser	1		ND	ND
22	[36]	1	Thr104Ile	1		ND	ND
23	[36]	1	Tyr108Cys	1		ND	ND
24	[38]	1	Pro146Ser	2		ND	ND

Missense mutations are ordered by codon number. Five additional alleles (#20-24) have also been reported, but not studied in vitro. Only newly identified alleles were included from Cerrato et al[37] since it was not possible to determine which patients with known causative alleles had been reported previously.

ND= not done;ECD = extracellular domain; ECL = extracellular loop, TMD = transmembrane domain; ICL = intracellular loop.