2005, NucleaRDB.
This data was extracted from medline abstracts and full text papers (when available) in an automated manner.
| Protein | ANDR_HUMAN (AR,DHTR, NR3C) | Swiss-Prot Cross-reference table Family page |
| Family alignments |
3C4 Androgen (AR) 3C Glucocorticoid-like (GR,MR,PR,AR) 3 Estrogen like (ER,ERR,GR,MR,PR,AR) |
| Mutation | Location | General numbering | Reference | |
|---|---|---|---|---|
| S16A | N-term | Gioeli D et al., J Biol Chem 2002 | Medline | |
| G21E | N-term | Callewaert L et al., J Biol Chem 2003 | Medline | |
| L26A | N-term | He B et al., J Biol Chem 2002 | Medline | |
| F27A | N-term | He B et al., J Biol Chem 2002 | Medline | |
| Q58L | N-term | Lund A et al., Fertil Steril 2003 | Medline | |
| S81A | N-term | Gioeli D et al., J Biol Chem 2002 | Medline | |
| S81A | N-term | Fu M et al., J Biol Chem 2004 | Medline | |
| S81D | N-term | Gioeli D et al., J Biol Chem 2002 | Medline | |
| S94A | N-term | Gioeli D et al., J Biol Chem 2002 | Medline | |
| S94A | N-term | Fu M et al., J Biol Chem 2004 | Medline | |
| S119X | N-term | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline | |
| L121A | N-term | Liu Y et al., J Biol Chem 2004 | Medline | |
| P151S | N-term | Nesslinger NJ et al., Cancer Res 2003 | Medline | |
| D154N | N-term | LaFevre-Bernt MA et al., J Biol Chem 2003 | Medline | |
| G166S | N-term | Haapala K et al., Lab Invest 2001 | Medline | |
| L172X | N-term | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline | |
| S176S | N-term | Hyytinen ER et al., Lab Invest 2002 | Medline | |
| I182A | N-term | Alen P et al., Mol Cell Biol 1999 | Medline | |
| I182A | N-term | Callewaert L et al., J Biol Chem 2003 | Medline | |
| L183A | N-term | Alen P et al., Mol Cell Biol 1999 | Medline | |
| L183A | N-term | Callewaert L et al., J Biol Chem 2003 | Medline | |
| R210R | N-term | Yan J et al., Psychiatr Genet 2004 | Medline | |
| E211E | N-term | Yan J et al., Psychiatr Genet 2004 | Medline | |
| G214R | N-term | Betney R et al., J Mol Endocrinol 2003 | Medline | |
| N222K | N-term | Betney R et al., J Mol Endocrinol 2003 | Medline | |
| N233K | N-term | Giwercman YL et al., Clin Endocrinol (Oxf) 2001 | Medline | |
| N233K | N-term | Lundin KB et al., Mol Hum Reprod 2003 | Medline | |
| N233K | N-term | Holdcraft RW et al., Development 2004 | Medline | |
| S256A | N-term | Gioeli D et al., J Biol Chem 2002 | Medline | |
| S256A | N-term | Fu M et al., J Biol Chem 2004 | Medline | |
| S308A | N-term | Gioeli D et al., J Biol Chem 2002 | Medline | |
| S308A | N-term | Fu M et al., J Biol Chem 2004 | Medline | |
| S308D | N-term | Gioeli D et al., J Biol Chem 2002 | Medline | |
| A355P | N-term | Reid J et al., J Biol Chem 2002 | Medline | |
| P390D | N-term | Hiort O et al., J Clin Endocrinol Metab 2000 | Medline | |
| P390S | N-term | Hiort O et al., J Clin Endocrinol Metab 2000 | Medline | |
| S424A | N-term | Gioeli D et al., J Biol Chem 2002 | Medline | |
| S424A | N-term | Fu M et al., J Biol Chem 2004 | Medline | |
| S426A | N-term | Fu M et al., J Biol Chem 2004 | Medline | |
| W433A | N-term | He B et al., J Biol Chem 2002 | Medline | |
| L436A | N-term | He B et al., J Biol Chem 2002 | Medline | |
| F437A | N-term | He B et al., J Biol Chem 2002 | Medline | |
| P514S | N-term | Hyytinen ER et al., Lab Invest 2002 | Medline | |
| P516S | N-term | Yan J et al., Psychiatr Genet 2004 | Medline | |
| K520E | N-term | Liu GZ et al., J Biol Chem 2003 | Medline | |
| G524A | N-term | Hyytinen ER et al., Lab Invest 2002 | Medline | |
| G524S | N-term | Hyytinen ER et al., Lab Invest 2002 | Medline | |
| D528G | N-term | Liu GZ et al., J Biol Chem 2003 | Medline | |
| P533S | N-term | Hyytinen ER et al., Lab Invest 2002 | Medline | |
| R538E | N-term | Liu GZ et al., J Biol Chem 2003 | Medline | |
| L547F | N-term | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline | |
| C562G | DNA_BIND | D004 | Yen PM et al., Mol Endocrinol 1997 | Medline |
| G568V | DNA_BIND | D010 | Poukka H et al., J Biol Chem 2000 | Medline |
| L574P | DNA_BIND | D016 | Shi XB et al., Cancer Res 2002 | Medline |
| T575A | DNA_BIND | D017 | Marcelli M et al., Cancer Res 2000 | Medline |
| T575A | DNA_BIND | D017 | Shi XB et al., Cancer Res 2002 | Medline |
| S578T | DNA_BIND | D020 | Lundberg Giwercman Y et al., Horm Res 2000 | Medline |
| K580E | DNA_BIND | D022 | Liu GZ et al., J Biol Chem 2003 | Medline |
| K580R | DNA_BIND | D022 | Marcelli M et al., Cancer Res 2000 | Medline |
| K580R | DNA_BIND | D022 | Shi XB et al., Cancer Res 2002 | Medline |
| F582Y | DNA_BIND | D024 | Black BE et al., Mol Endocrinol 2004 | Medline |
| A586V | DNA_BIND | D028 | Marcelli M et al., Cancer Res 2000 | Medline |
| A586V | DNA_BIND | D028 | Shi XB et al., Cancer Res 2002 | Medline |
| A587S | DNA_BIND | D029 | Marcelli M et al., Cancer Res 2000 | Medline |
| A587S | DNA_BIND | D029 | Shi XB et al., Cancer Res 2002 | Medline |
| A596T | DNA_BIND | D038 | Lundberg Giwercman Y et al., Horm Res 2000 | Medline |
| A596T | DNA_BIND | D038 | Geserick C et al., Mol Endocrinol 2003 | Medline |
| S597R | DNA_BIND | D039 | Giwercman YL et al., Horm Res 2004 | Medline |
| R598D | DNA_BIND | D040 | Geserick C et al., Mol Endocrinol 2003 | Medline |
| T602P | DNA_BIND | D044 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline |
| R607Q | DNA_BIND | D049 | Aarnisalo P et al., Endocrinology 1999 | Medline |
| R607Q | DNA_BIND | D049 | Poukka H et al., J Biol Chem 2000 | Medline |
| R607X | DNA_BIND | D049 | Lundberg Giwercman Y et al., Horm Res 2000 | Medline |
| R608K | DNA_BIND | D050 | Aarnisalo P et al., Endocrinology 1999 | Medline |
| R608K | DNA_BIND | D050 | Yeh S et al., J Exp Med 2003 | Medline |
| R615G | DNA_BIND | D057 | Lundberg Giwercman Y et al., Horm Res 2000 | Medline |
| R617P | DNA_BIND | D059 | Heinlein CA et al., Endocr Rev 2002 | Medline |
| C619Y | DNA_BIND | D061 | Nazareth LV et al., Mol Endocrinol 1999 | Medline |
| C619Y | DNA_BIND | D061 | Marcelli M et al., Cancer Res 2000 | Medline |
| C619Y | DNA_BIND | D061 | Shi XB et al., Cancer Res 2002 | Medline |
| C619Y | DNA_BIND | D061 | Carsol JL et al., Mol Endocrinol 2002 | Medline |
| C619Y | DNA_BIND | D061 | Tan J et al., Mol Endocrinol 1997 | Medline |
| R629Q | HINGE | Shi XB et al., Cancer Res 2002 | Medline | |
| K630A | HINGE | Fu M et al., J Biol Chem 2000 | Medline | |
| K630A | HINGE | Thomas M et al., J Biol Chem 2004 | Medline | |
| K630A | HINGE | Fu M et al., J Biol Chem 2004 | Medline | |
| K630Q | HINGE | Fu M et al., J Biol Chem 2004 | Medline | |
| K630T | HINGE | Shi XB et al., Cancer Res 2002 | Medline | |
| K632A | HINGE | Fu M et al., J Biol Chem 2000 | Medline | |
| K632A | HINGE | Thomas M et al., J Biol Chem 2004 | Medline | |
| K633A | HINGE | Fu M et al., J Biol Chem 2000 | Medline | |
| K633A | HINGE | Thomas M et al., J Biol Chem 2004 | Medline | |
| A645D | HINGE | Giwercman YL et al., J Clin Endocrinol Metab 2002 | Medline | |
| A645D | HINGE | Gottlieb B et al., Nucleic Acids Res 1997 | Medline | |
| S646F | HINGE | Thompson J et al., Lab Invest 2003 | Medline | |
| S647N | HINGE | Shi XB et al., Cancer Res 2002 | Medline | |
| T649T | HINGE | Segawa N et al., Int J Urol 2002 | Medline | |
| S650A | HINGE | Gioeli D et al., J Biol Chem 2002 | Medline | |
| S650A | HINGE | Fu M et al., J Biol Chem 2004 | Medline | |
| S650D | HINGE | Gioeli D et al., J Biol Chem 2002 | Medline | |
| E653K | HINGE | Giwercman YL et al., J Clin Endocrinol Metab 2002 | Medline | |
| I664N | HINGE | Giwercman YL et al., J Clin Endocrinol Metab 2002 | Medline | |
| Q670R | LBD HELIX 1 | 139 | Shi XB et al., Cancer Res 2002 | Medline |
| I672T | LBD HELIX 1 | 141 | Shi XB et al., Cancer Res 2002 | Medline |
| P682T | LBD HELIX 1 | 151 | Chavez B et al., J Hum Genet 2001 | Medline |
| G683A | LBD HELIX 1 | 152 | Shi XB et al., Cancer Res 2002 | Medline |
| H689P | Loop 1-3 | Rosa S et al., J Clin Endocrinol Metab 2002 | Medline | |
| L701H | LBD HELIX 3 | 332 | Zhao XY et al., J Urol 1999 | Medline |
| L701H | LBD HELIX 3 | 332 | Han G et al., J Biol Chem 2001 | Medline |
| L701H | LBD HELIX 3 | 332 | Thompson J et al., Mol Endocrinol 2001 | Medline |
| L701H | LBD HELIX 3 | 332 | Chang CY et al., Cancer Res 2001 | Medline |
| L701H | LBD HELIX 3 | 332 | Shi XB et al., Cancer Res 2002 | Medline |
| L701H | LBD HELIX 3 | 332 | Matias PM et al., J Med Chem 2002 | Medline |
| L701H | LBD HELIX 3 | 332 | Krishnan AV et al., Endocrinology 2002 | Medline |
| L701H | LBD HELIX 3 | 332 | Hara T et al., Cancer Res 2003 | Medline |
| L701H | LBD HELIX 3 | 332 | Ceraline J et al., Eur J Endocrinol 2003 | Medline |
| L701H | LBD HELIX 3 | 332 | Mooney SD et al., Nucleic Acids Res 2003 | Medline |
| L701I | LBD HELIX 3 | 332 | Chavez B et al., Clin Genet 2001 | Medline |
| S703G | LBD HELIX 3 | 334 | Thin TH et al., J Biol Chem 2002 | Medline |
| N705A | LBD HELIX 3 | 336 | Marhefka CA et al., J Med Chem 2001 | Medline |
| N705S | LBD HELIX 3 | 336 | Marhefka CA et al., J Med Chem 2001 | Medline |
| N705S | LBD HELIX 3 | 336 | Thin TH et al., J Biol Chem 2002 | Medline |
| N705S | LBD HELIX 3 | 336 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline |
| L707R | LBD HELIX 3 | 338 | Marhefka CA et al., J Med Chem 2001 | Medline |
| L707R | LBD HELIX 3 | 338 | Thin TH et al., J Biol Chem 2002 | Medline |
| G708A | LBD HELIX 3 | 339 | Terouanne B et al., Mol Pharmacol 2003 | Medline |
| G708F | LBD HELIX 3 | 339 | Terouanne B et al., Mol Pharmacol 2003 | Medline |
| G708V | LBD HELIX 3 | 339 | Terouanne B et al., Mol Pharmacol 2003 | Medline |
| E709E | LBD HELIX 3 | 340 | Segawa N et al., Int J Urol 2002 | Medline |
| E709K | LBD HELIX 3 | 340 | Thin TH et al., J Biol Chem 2002 | Medline |
| Q711E | LBD HELIX 3 | 342 | Chavez B et al., J Hum Genet 2001 | Medline |
| Q711E | LBD HELIX 3 | 342 | Thin TH et al., J Biol Chem 2003 | Medline |
| L712F | LBD HELIX 3 | 343 | Holterhus PM et al., J Clin Endocrinol Metab 2000 | Medline |
| L712R | LBD HELIX 3 | 343 | Alen P et al., Mol Endocrinol 1999 | Medline |
| V715A | LBD HELIX 3 | 346 | Alen P et al., Mol Endocrinol 1999 | Medline |
| V715M | LBD HELIX 3 | 346 | Taplin ME et al., Cancer Res 1999 | Medline |
| V715M | LBD HELIX 3 | 346 | Thompson J et al., Mol Endocrinol 2001 | Medline |
| V715M | LBD HELIX 3 | 346 | Grossmann ME et al., J Natl Cancer Inst 2001 | Medline |
| V715M | LBD HELIX 3 | 346 | Shi XB et al., Cancer Res 2002 | Medline |
| V715M | LBD HELIX 3 | 346 | Hara T et al., Cancer Res 2003 | Medline |
| V715M | LBD HELIX 3 | 346 | Tan J et al., Mol Endocrinol 1997 | Medline |
| V716A | LBD HELIX 3 | 347 | Alen P et al., Mol Endocrinol 1999 | Medline |
| V716R | LBD HELIX 3 | 347 | He B et al., J Biol Chem 2002 | Medline |
| V716R | LBD HELIX 3 | 347 | Song LN et al., Mol Cell Biol 2003 | Medline |
| K717E | LBD HELIX 3 | 348 | Shi XB et al., Cancer Res 2002 | Medline |
| W718A | LBD HELIX 3 | 349 | Alen P et al., Mol Endocrinol 1999 | Medline |
| A719K | LBD HELIX 3 | 350 | Alen P et al., Mol Endocrinol 1999 | Medline |
| K720A | LBD HELIX 3 | 351 | Alen P et al., Mol Cell Biol 1999 | Medline |
| K720A | LBD HELIX 3 | 351 | Thompson J et al., Mol Endocrinol 2001 | Medline |
| K720A | LBD HELIX 3 | 351 | He B et al., J Biol Chem 2002 | Medline |
| K720A | LBD HELIX 3 | 351 | Song LN et al., Mol Cell Biol 2003 | Medline |
| K720A | LBD HELIX 3 | 351 | Black BE et al., Mol Endocrinol 2004 | Medline |
| K720A | LBD HELIX 3 | 351 | Alen P et al., Mol Endocrinol 1999 | Medline |
| K720E | LBD HELIX 3 | 351 | Shi XB et al., Cancer Res 2002 | Medline |
| A721T | LBD HELIX 3 | 352 | Shi XB et al., Cancer Res 2002 | Medline |
| G724D | Loop 3-4 | Shi XB et al., Cancer Res 2002 | Medline | |
| F725L | Loop 3-4 | Thompson J et al., Mol Endocrinol 2001 | Medline | |
| F725L | Loop 3-4 | Ghali SA et al., J Clin Endocrinol Metab 2003 | Medline | |
| R726L | Loop 3-4 | Lim J et al., Mol Endocrinol 2000 | Medline | |
| R726L | Loop 3-4 | Mononen N et al., Cancer Res 2000 | Medline | |
| R726L | Loop 3-4 | Thompson J et al., Mol Endocrinol 2001 | Medline | |
| R726L | Loop 3-4 | Shi XB et al., Cancer Res 2002 | Medline | |
| R726L | Loop 3-4 | Hyytinen ER et al., Lab Invest 2002 | Medline | |
| R726L | Loop 3-4 | Thin TH et al., J Biol Chem 2003 | Medline | |
| R726L | Loop 3-4 | Gruber SB et al., Prostate 2003 | Medline | |
| R726L | Loop 3-4 | Syrjakoski K et al., Breast Cancer Res Treat 2003 | Medline | |
| R726L | Loop 3-4 | Koivisto PA et al., J Urol 2004 | Medline | |
| R726L | Loop 3-4 | Yan J et al., Psychiatr Genet 2004 | Medline | |
| N727K | Loop 3-4 | Lim J et al., Mol Endocrinol 2000 | Medline | |
| N727K | Loop 3-4 | Wang Q et al., J Biol Chem 2001 | Medline | |
| N727K | Loop 3-4 | Thompson J et al., Mol Endocrinol 2001 | Medline | |
| N727K | Loop 3-4 | Ghali SA et al., J Clin Endocrinol Metab 2003 | Medline | |
| V730M | LBD HELIX 4 | 448 | Shi XB et al., Cancer Res 2002 | Medline |
| V730M | LBD HELIX 4 | 448 | Tan J et al., Mol Endocrinol 1997 | Medline |
| S740C | LBD HELIX 4 | 458 | Pitteloud N et al., J Clin Endocrinol Metab 2004 | Medline |
| W741C | LBD HELIX 5 | 548 | Haapala K et al., Lab Invest 2001 | Medline |
| W741C | LBD HELIX 5 | 548 | Hara T et al., Cancer Res 2003 | Medline |
| W741C | LBD HELIX 5 | 548 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline |
| W741L | LBD HELIX 5 | 548 | Hara T et al., Cancer Res 2003 | Medline |
| W741R | LBD HELIX 5 | 548 | McPhaul MJ et al., J Clin Endocrinol Metab 1999 | Medline |
| W741R | LBD HELIX 5 | 548 | Marhefka CA et al., J Med Chem 2001 | Medline |
| W741R | LBD HELIX 5 | 548 | McPhaul M et al., Recent Prog Horm Res 2002 | Medline |
| M742I | LBD HELIX 5 | 549 | Marhefka CA et al., J Med Chem 2001 | Medline |
| M742V | LBD HELIX 5 | 549 | Marhefka CA et al., J Med Chem 2001 | Medline |
| M742V | LBD HELIX 5 | 549 | Thompson J et al., Mol Endocrinol 2001 | Medline |
| M742V | LBD HELIX 5 | 549 | Ghali SA et al., J Clin Endocrinol Metab 2003 | Medline |
| M742V | LBD HELIX 5 | 549 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline |
| G743E | LBD HELIX 5 | 550 | Chavez B et al., J Hum Genet 2001 | Medline |
| G743G | LBD HELIX 5 | 550 | Hyytinen ER et al., Lab Invest 2002 | Medline |
| G743R | LBD HELIX 5 | 550 | Chavez B et al., Clin Genet 2001 | Medline |
| G743V | LBD HELIX 5 | 550 | Thompson J et al., Mol Endocrinol 2001 | Medline |
| G743V | LBD HELIX 5 | 550 | Gaughan L et al., J Biol Chem 2001 | Medline |
| L744L | LBD HELIX 5 | 551 | Hyytinen ER et al., Lab Invest 2002 | Medline |
| M745T | LBD HELIX 5 | 552 | Marhefka CA et al., J Med Chem 2001 | Medline |
| A748D | LBD HELIX 5 | 555 | Marcelli M et al., Cancer Res 2000 | Medline |
| A748D | LBD HELIX 5 | 555 | Marhefka CA et al., J Med Chem 2001 | Medline |
| A748T | LBD HELIX 5 | 555 | Shi XB et al., Cancer Res 2002 | Medline |
| A748T | LBD HELIX 5 | 555 | James AJ et al., Mol Endocrinol 2002 | Medline |
| A748V | LBD HELIX 5 | 555 | Marcelli M et al., Cancer Res 2000 | Medline |
| A748V | LBD HELIX 5 | 555 | Shi XB et al., Cancer Res 2002 | Medline |
| M749I | LBD HELIX 5 | 556 | Haapala K et al., Lab Invest 2001 | Medline |
| M749I | LBD HELIX 5 | 556 | Shi XB et al., Cancer Res 2002 | Medline |
| M749I | LBD HELIX 5 | 556 | Thin TH et al., J Biol Chem 2003 | Medline |
| M749L | LBD HELIX 5 | 556 | Thin TH et al., J Biol Chem 2003 | Medline |
| G750D | LBD HELIX 5 | 557 | Bevan CL et al., J Steroid Biochem Mol Biol 1997 | Medline |
| G750S | LBD HELIX 5 | 557 | Shi XB et al., Cancer Res 2002 | Medline |
| R752Q | LBD HELIX 5 | 559 | Alen P et al., Mol Cell Biol 1999 | Medline |
| R752Q | LBD HELIX 5 | 559 | Marhefka CA et al., J Med Chem 2001 | Medline |
| R752Q | LBD HELIX 5 | 559 | Bubulya A et al., J Biol Chem 2001 | Medline |
| R752Q | LBD HELIX 5 | 559 | Langley E et al., J Biol Chem 1998 | Medline |
| R752X | LBD HELIX 5 | 559 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline |
| F754L | Loop 5-6 | Thompson J et al., Mol Endocrinol 2001 | Medline | |
| F754L | Loop 5-6 | Shi XB et al., Cancer Res 2002 | Medline | |
| T755A | Loop 5-6 | Shi XB et al., Cancer Res 2002 | Medline | |
| N756S | Loop 5-6 | Giwercman YL et al., Clin Endocrinol (Oxf) 2001 | Medline | |
| N756S | Loop 5-6 | Lundin KB et al., Mol Hum Reprod 2003 | Medline | |
| N756S | Loop 5-6 | Holdcraft RW et al., Development 2004 | Medline | |
| V757A | Loop 5-6 | Marcelli M et al., Cancer Res 2000 | Medline | |
| V757A | Loop 5-6 | Shi XB et al., Cancer Res 2002 | Medline | |
| V757I | Loop 5-6 | Hyytinen ER et al., Lab Invest 2002 | Medline | |
| S759P | Loop 5-6 | Shi XB et al., Cancer Res 2002 | Medline | |
| L762F | Loop 5-6 | Bevan CL et al., J Steroid Biochem Mol Biol 1997 | Medline | |
| Y763C | Loop 5-6 | Shi XB et al., Cancer Res 2002 | Medline | |
| Y763C | Loop 5-6 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline | |
| Y763C | Loop 5-6 | Murono K et al., Hum Mutat 1995 | Medline | |
| Y763C | Loop 5-6 | Langley E et al., J Biol Chem 1998 | Medline | |
| Y763H | Loop 5-6 | Langley E et al., J Biol Chem 1998 | Medline | |
| F764L | Loop 5-6 | Marhefka CA et al., J Med Chem 2001 | Medline | |
| A765S | Loop 5-6 | Chavez B et al., Clin Genet 2001 | Medline | |
| A765T | Loop 5-6 | Bevan CL et al., J Steroid Biochem Mol Biol 1997 | Medline | |
| L768P | Loop 5-6 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline | |
| L768V | Loop 5-6 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline | |
| E772A | LBD HELIX 6 | 647 | Ghali SA et al., J Clin Endocrinol Metab 2003 | Medline |
| E772A | LBD HELIX 6 | 647 | Gottlieb B et al., Nucleic Acids Res 1998 | Medline |
| R774C | LBD HELIX 6 | 649 | Gottlieb B et al., Hum Mutat 1999 | Medline |
| R774C | LBD HELIX 6 | 649 | McPhaul MJ et al., J Clin Endocrinol Metab 1999 | Medline |
| R774C | LBD HELIX 6 | 649 | McPhaul M et al., Recent Prog Horm Res 2002 | Medline |
| R774C | LBD HELIX 6 | 649 | Ghali SA et al., J Clin Endocrinol Metab 2003 | Medline |
| R774C | LBD HELIX 6 | 649 | Wu JH et al., Hum Mutat 2003 | Medline |
| R774C | LBD HELIX 6 | 649 | Brown TR et al., Mol Endocrinol 1990 | Medline |
| R774H | LBD HELIX 6 | 649 | Gottlieb B et al., Hum Mutat 1999 | Medline |
| R779W | Loop 6-7 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline | |
| R779W | Loop 6-7 | Murono K et al., Hum Mutat 1995 | Medline | |
| M780I | Loop 6-7 | Gottlieb B et al., Hum Mutat 1999 | Medline | |
| M780I | Loop 6-7 | Holterhus PM et al., J Clin Endocrinol Metab 2000 | Medline | |
| S782N | LBD HELIX 7 | 737 | Shi XB et al., Cancer Res 2002 | Medline |
| C784Y | LBD HELIX 7 | 739 | Shi XB et al., Cancer Res 2002 | Medline |
| C784Y | LBD HELIX 7 | 739 | Carsol JL et al., Mol Endocrinol 2002 | Medline |
| R786X | LBD HELIX 7 | 741 | Ignacak M et al., J Appl Genet 2002 | Medline |
| M787V | LBD HELIX 7 | 742 | Marhefka CA et al., J Med Chem 2001 | Medline |
| S791P | LBD HELIX 7 | 746 | Shi XB et al., Cancer Res 2002 | Medline |
| Q798E | Loop 7-8 | Hiort O et al., J Clin Endocrinol Metab 2000 | Medline | |
| Q798E | Loop 7-8 | Shi XB et al., Cancer Res 2002 | Medline | |
| Q798E | Loop 7-8 | Carsol JL et al., Mol Endocrinol 2002 | Medline | |
| Q798E | Loop 7-8 | Koivisto PA et al., J Urol 2004 | Medline | |
| P801T | LBD HELIX 8 | 848 | Shi XB et al., Cancer Res 2002 | Medline |
| Q802R | LBD HELIX 8 | 849 | Chavez B et al., Clin Genet 2001 | Medline |
| F804L | LBD HELIX 8 | 851 | Gad YZ et al., Clin Genet 2003 | Medline |
| M807R | LBD HELIX 8 | 854 | Ong YC et al., Mol Hum Reprod 2002 | Medline |
| M807T | LBD HELIX 8 | 854 | Loy CJ et al., Curr Opin Obstet Gynecol 2001 | Medline |
| M807T | LBD HELIX 8 | 854 | Ong YC et al., Mol Hum Reprod 2002 | Medline |
| M807V | LBD HELIX 8 | 854 | Ong YC et al., Mol Hum Reprod 2002 | Medline |
| M807V | LBD HELIX 8 | 854 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline |
| M807V | LBD HELIX 8 | 854 | Murono K et al., Hum Mutat 1995 | Medline |
| L812F | LBD HELIX 8 | 859 | Yaegashi N et al., Tohoku J Exp Med 1999 | Medline |
| L812F | LBD HELIX 8 | 859 | Muroya K et al., Mol Hum Reprod 2001 | Medline |
| S814N | Loop 8-9 | Ghali SA et al., J Clin Endocrinol Metab 2003 | Medline | |
| P817A | Loop 8-9 | Lumbroso S et al., J Mol Endocrinol 2004 | Medline | |
| Q824K | LBD HELIX 9 | 936 | Giwercman A et al., J Clin Endocrinol Metab 2000 | Medline |
| F827V | LBD HELIX 9 | 939 | Chavez B et al., J Hum Genet 2001 | Medline |
| L830P | LBD HELIX 9 | 942 | Shi XB et al., Cancer Res 2002 | Medline |
| L830V | LBD HELIX 9 | 942 | Chavez B et al., Clin Genet 2001 | Medline |
| R831L | LBD HELIX 9 | 943 | Chen CP et al., Fertil Steril 2000 | Medline |
| R831Q | LBD HELIX 9 | 943 | Gottlieb B et al., Hum Mutat 1999 | Medline |
| R831Q | LBD HELIX 9 | 943 | Yaegashi N et al., Tohoku J Exp Med 1999 | Medline |
| R831Q | LBD HELIX 9 | 943 | Chen CP et al., Fertil Steril 2000 | Medline |
| R831Q | LBD HELIX 9 | 943 | Brown TR et al., Mol Endocrinol 1990 | Medline |
| R831X | LBD HELIX 9 | 943 | Chen CP et al., Fertil Steril 2000 | Medline |
| R840C | LBD HELIX 9 | 952 | Melo KF et al., Hum Mutat 1999 | Medline |
| R840C | LBD HELIX 9 | 952 | Mazen I et al., J Endocrinol Invest 2004 | Medline |
| R840G | LBD HELIX 9 | 952 | Melo KF et al., Hum Mutat 1999 | Medline |
| R840G | LBD HELIX 9 | 952 | Mazen I et al., J Endocrinol Invest 2004 | Medline |
| R840H | LBD HELIX 9 | 952 | Melo KF et al., Hum Mutat 1999 | Medline |
| R840H | LBD HELIX 9 | 952 | Mazen I et al., J Endocrinol Invest 2004 | Medline |
| R840S | LBD HELIX 9 | 952 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline |
| R840S | LBD HELIX 9 | 952 | Mazen I et al., J Endocrinol Invest 2004 | Medline |
| R846G | LBD HELIX 9 | 958 | Marcelli M et al., Cancer Res 2000 | Medline |
| R846G | LBD HELIX 9 | 958 | Shi XB et al., Cancer Res 2002 | Medline |
| R846H | LBD HELIX 9 | 958 | Boehmer AL et al., J Clin Endocrinol Metab 2001 | Medline |
| R855C | LBD HELIX 10-11 | 1039 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline |
| R855C | LBD HELIX 10-11 | 1039 | Elhaji YA et al., Mol Endocrinol 2004 | Medline |
| R855C | LBD HELIX 10-11 | 1039 | Murono K et al., Hum Mutat 1995 | Medline |
| R855H | LBD HELIX 10-11 | 1039 | Melo KF et al., J Clin Endocrinol Metab 2003 | Medline |
| R855H | LBD HELIX 10-11 | 1039 | Elhaji YA et al., Mol Endocrinol 2004 | Medline |
| D864N | LBD HELIX 10-11 | 1048 | Bevan CL et al., J Steroid Biochem Mol Biol 1997 | Medline |
| S865P | LBD HELIX 10-11 | 1049 | Marcelli M et al., Cancer Res 2000 | Medline |
| S865P | LBD HELIX 10-11 | 1049 | Shi XB et al., Cancer Res 2002 | Medline |
| V866M | LBD HELIX 10-11 | 1050 | Shi XB et al., Cancer Res 2002 | Medline |
| V866M | LBD HELIX 10-11 | 1050 | Hyytinen ER et al., Lab Invest 2002 | Medline |
| V866M | LBD HELIX 10-11 | 1050 | Ghali SA et al., J Clin Endocrinol Metab 2003 | Medline |
| V866M | LBD HELIX 10-11 | 1050 | Brown TR et al., Mol Endocrinol 1990 | Medline |
| V866M | LBD HELIX 10-11 | 1050 | Langley E et al., J Biol Chem 1998 | Medline |
| A870E | LBD HELIX 10-11 | 1054 | Chen CP et al., Fertil Steril 2000 | Medline |
| R871G | LBD HELIX 10-11 | 1055 | Ghali SA et al., J Clin Endocrinol Metab 2003 | Medline |
| R871G | LBD HELIX 10-11 | 1055 | Gottlieb B et al., Nucleic Acids Res 1998 | Medline |
| H874R | LBD HELIX 10-11 | 1058 | Chavez B et al., J Hum Genet 2001 | Medline |
| H874Y | LBD HELIX 10-11 | 1058 | Taplin ME et al., Cancer Res 1999 | Medline |
| H874Y | LBD HELIX 10-11 | 1058 | McDonald S et al., Cancer Res 2000 | Medline |
| H874Y | LBD HELIX 10-11 | 1058 | Grossmann ME et al., J Natl Cancer Inst 2001 | Medline |
| H874Y | LBD HELIX 10-11 | 1058 | Shi XB et al., Cancer Res 2002 | Medline |
| H874Y | LBD HELIX 10-11 | 1058 | Solit DB et al., Clin Cancer Res 2002 | Medline |
| H874Y | LBD HELIX 10-11 | 1058 | Steketee K et al., Int J Cancer 2002 | Medline |
| H874Y | LBD HELIX 10-11 | 1058 | Thin TH et al., J Biol Chem 2003 | Medline |
| H874Y | LBD HELIX 10-11 | 1058 | Hara T et al., Cancer Res 2003 | Medline |
| H874Y | LBD HELIX 10-11 | 1058 | Shao TC et al., Prostate 2003 | Medline |
| H874Y | LBD HELIX 10-11 | 1058 | Tan J et al., Mol Endocrinol 1997 | Medline |
| T877 | LBD HELIX 10-11 | 1061 | Buchanan G et al., Clin Cancer Res 2001 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Taplin ME et al., Cancer Res 1999 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Zhao XY et al., J Urol 1999 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | McDonald S et al., Cancer Res 2000 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Truica CI et al., Cancer Res 2000 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Han G et al., J Biol Chem 2001 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Kang HY et al., Proc Natl Acad Sci U S A 2001 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Sack JS et al., Proc Natl Acad Sci U S A 2001 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Marhefka CA et al., J Med Chem 2001 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Tomura A et al., J Biol Chem 2001 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Thompson J et al., Mol Endocrinol 2001 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Grossmann ME et al., J Natl Cancer Inst 2001 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Haapala K et al., Lab Invest 2001 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Chang CY et al., Cancer Res 2001 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Shi XB et al., Cancer Res 2002 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Matias PM et al., J Med Chem 2002 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Krishnan AV et al., Endocrinology 2002 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Solit DB et al., Clin Cancer Res 2002 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Cheng S et al., Mol Endocrinol 2002 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Steketee K et al., Int J Cancer 2002 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Maggiolini M et al., Mol Pharmacol 2002 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Hyytinen ER et al., Lab Invest 2002 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Thin TH et al., J Biol Chem 2003 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Hara T et al., Cancer Res 2003 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Ceraline J et al., Eur J Endocrinol 2003 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Berrevoets CA et al., Mol Cell Endocrinol 2002 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Song LN et al., Mol Cell Biol 2003 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Rahman MM et al., J Biol Chem 2003 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Mooney SD et al., Nucleic Acids Res 2003 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Rahman MM et al., Proc Natl Acad Sci U S A 2003 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Ghali SA et al., J Clin Endocrinol Metab 2003 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Ishioka T et al., Bioorg Med Chem Lett 2003 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Thompson J et al., Lab Invest 2003 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Ceraline J et al., Int J Cancer 2004 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Gregory CW et al., J Biol Chem 2004 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Ai N et al., Chem Res Toxicol 2003 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Berrevoets CA et al., Biochem J 2004 | Medline |
| T877A | LBD HELIX 10-11 | 1061 | Gottlieb B et al., Nucleic Acids Res 1997 | Medline |
| T877C | LBD HELIX 10-11 | 1061 | Steketee K et al., Int J Cancer 2002 | Medline |
| T877G | LBD HELIX 10-11 | 1061 | Steketee K et al., Int J Cancer 2002 | Medline |
| T877S | LBD HELIX 10-11 | 1061 | Taplin ME et al., Cancer Res 1999 | Medline |
| T877S | LBD HELIX 10-11 | 1061 | Steketee K et al., Int J Cancer 2002 | Medline |
| T877S | LBD HELIX 10-11 | 1061 | Thin TH et al., J Biol Chem 2003 | Medline |
| T877S | LBD HELIX 10-11 | 1061 | Hara T et al., Cancer Res 2003 | Medline |
| T877S | LBD HELIX 10-11 | 1061 | Tan J et al., Mol Endocrinol 1997 | Medline |
| D879Y | Loop 11-12 | Chavez B et al., J Hum Genet 2001 | Medline | |
| L880Q | Loop 11-12 | Shi XB et al., Cancer Res 2002 | Medline | |
| M886V | Loop 11-12 | Ghadessy FJ et al., J Clin Invest 1999 | Medline | |
| M886V | Loop 11-12 | Lim J et al., Mol Endocrinol 2000 | Medline | |
| M886V | Loop 11-12 | Wang Q et al., J Biol Chem 2001 | Medline | |
| M886V | Loop 11-12 | Thompson J et al., Mol Endocrinol 2001 | Medline | |
| M886V | Loop 11-12 | Ghali SA et al., J Clin Endocrinol Metab 2003 | Medline | |
| S888S | Loop 11-12 | Chavez B et al., J Hum Genet 2001 | Medline | |
| V889M | Loop 11-12 | Ghadessy FJ et al., J Clin Invest 1999 | Medline | |
| V889M | Loop 11-12 | Alen P et al., Mol Cell Biol 1999 | Medline | |
| V889M | Loop 11-12 | Marhefka CA et al., J Med Chem 2001 | Medline | |
| V889M | Loop 11-12 | Bubulya A et al., J Biol Chem 2001 | Medline | |
| V889M | Loop 11-12 | Song LN et al., Mol Cell Biol 2003 |