HSD17B3 17β-hydroxysteroid dehydrogenase ENST00000375263 NP_000188 |
p.Ser65Leu |
p.Val25Met |
(88. Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, et al. Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996;81(1):130-6. https://doi.org/10.1210/jcem.81.1.8550739. https://doi.org/10.1210/jcem.81.1.855073...
) |
p.Arg80Gln |
p.Val31Leu |
(88. Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, et al. Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996;81(1):130-6. https://doi.org/10.1210/jcem.81.1.8550739. https://doi.org/10.1210/jcem.81.1.855073...
) |
p.Ala203Val |
p.Gly289Arg |
(99. Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K, et al. Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet. 2015;24(8):2125-37. https://doi.org/10.1093/hmg/ddu733. https://doi.org/10.1093/hmg/ddu733...
) |
p.Val205Glu |
p.Ile102Phe |
(88. Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, et al. Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996;81(1):130-6. https://doi.org/10.1210/jcem.81.1.8550739. https://doi.org/10.1210/jcem.81.1.855073...
) |
p.Phe208Ile |
p.Glu114Lys |
(88. Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, et al. Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996;81(1):130-6. https://doi.org/10.1210/jcem.81.1.8550739. https://doi.org/10.1210/jcem.81.1.855073...
) |
p.Glu215Asp |
p.Arg45Trp |
(88. Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, et al. Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996;81(1):130-6. https://doi.org/10.1210/jcem.81.1.8550739. https://doi.org/10.1210/jcem.81.1.855073...
) |
p.Ser232Leu |
p.Arg45Gln |
(1010. Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, et al. Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Nat Genet. 1994;7(1):34-9. https://doi.org/10.1038/ng0594-34. https://doi.org/10.1038/ng0594-34...
) |
p.Met235Val |
p.Ser65Ala |
(1010. Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, et al. Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. Nat Genet. 1994;7(1):34-9. https://doi.org/10.1038/ng0594-34. https://doi.org/10.1038/ng0594-34...
) |
p.Pro282Leu |
p.Ile223Val |
(88. Andersson S, Geissler WM, Wu L, Davis DL, Grumbach MM, New MI, et al. Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 1996;81(1):130-6. https://doi.org/10.1210/jcem.81.1.8550739. https://doi.org/10.1210/jcem.81.1.855073...
) |
p.Cys268Tyr |
|
(1111. Lindqvist A, Hughes IA, Andersson S. Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 2001;86(2):921-3. https://doi.org/10.1210/jcem.86.2.7172. https://doi.org/10.1210/jcem.86.2.7172...
) |
NR5A1 Steroidogenic factor 1 ENST00000373588.8 NP_004950 |
p.Val15Met |
p.Glu11Asp |
(1111. Lindqvist A, Hughes IA, Andersson S. Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 2001;86(2):921-3. https://doi.org/10.1210/jcem.86.2.7172. https://doi.org/10.1210/jcem.86.2.7172...
) |
p.Val20Leu |
p.Gly146Ala |
(1212. Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, et al. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab. 2007;92(3):991-9. https://doi.org/10.1210/jc.2006-1672. https://doi.org/10.1210/jc.2006-1672...
) |
p.His24Tyr |
p.Val173Met |
(1212. Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, et al. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab. 2007;92(3):991-9. https://doi.org/10.1210/jc.2006-1672. https://doi.org/10.1210/jc.2006-1672...
) |
p.Arg39Pro |
p.Gly178Arg |
(1313. Camats N, Pandey AV, Fernández-Cancio M, Andaluz P, Janner M, Torán N, et al. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. J Clin Endocrinol Metab. 2012;97(7):E1294-306. https://doi.org/10.1210/jc.2011-3169. https://doi.org/10.1210/jc.2011-3169...
) |
p.Met78Ile |
p.Tyr211Cys |
(1111. Lindqvist A, Hughes IA, Andersson S. Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency. J Clin Endocrinol Metab. 2001;86(2):921-3. https://doi.org/10.1210/jcem.86.2.7172. https://doi.org/10.1210/jcem.86.2.7172...
) |
p.Gly91Ser |
p.Pro235Leu |
(1414. Allali S, Muller JB, Brauner R, Lourenço D, Boudjenah R, Karageorgou V, et al. Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. PLoS One. 2011;6(10):e24117. https://doi.org/10.1371/journal.pone.0024117 https://doi.org/10.1371/journal.pone.002...
) |
p.Pro235Leu |
p.Thr296Met |
(1515. Lin L, Achermann JC. Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development. Sex Dev. 2008;2(4-5):200-9. https://doi.org/10.1159/000152036. https://doi.org/10.1159/000152036...
) |
p.Trp279Arg |
p.Val355Met |
(1313. Camats N, Pandey AV, Fernández-Cancio M, Andaluz P, Janner M, Torán N, et al. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. J Clin Endocrinol Metab. 2012;97(7):E1294-306. https://doi.org/10.1210/jc.2011-3169. https://doi.org/10.1210/jc.2011-3169...
) |
p.Arg313Cys |
|
(1313. Camats N, Pandey AV, Fernández-Cancio M, Andaluz P, Janner M, Torán N, et al. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. J Clin Endocrinol Metab. 2012;97(7):E1294-306. https://doi.org/10.1210/jc.2011-3169. https://doi.org/10.1210/jc.2011-3169...
) |
p.Leu437Gln |
|
(1414. Allali S, Muller JB, Brauner R, Lourenço D, Boudjenah R, Karageorgou V, et al. Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. PLoS One. 2011;6(10):e24117. https://doi.org/10.1371/journal.pone.0024117 https://doi.org/10.1371/journal.pone.002...
) |
AR Androgen receptor ENST00000374690.8 NP_000035 |
p.Cys579Phe |
p.Ala45Gly |
(1616. Imasaki K, Okabe T, Murakami H, Tanaka Y, Haji M, Takayanagi R, et al. Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. Mol Cell Endocrinol. 1996;120(1):15-24. https://doi.org/10.1016/0303-7207(96)03812-9. https://doi.org/10.1016/0303-7207(96)038...
) |
p.Phe582Tyr |
p.Gln59Leu |
(1616. Imasaki K, Okabe T, Murakami H, Tanaka Y, Haji M, Takayanagi R, et al. Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor. Mol Cell Endocrinol. 1996;120(1):15-24. https://doi.org/10.1016/0303-7207(96)03812-9. https://doi.org/10.1016/0303-7207(96)038...
) |
p.Arg710Thr |
p.Gln87His |
(1717. Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab. 2000;85(2):658-65. https://doi.org/10.1210/jcem.85.2.6337. https://doi.org/10.1210/jcem.85.2.6337...
) |
p.Gly724Asp |
p.Gln91Lys |
(1818. Jääskeläinen J, Mongan NP, Harland S, Hughes IA. Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome. Hum Mutat. 2006;27(3):291. https://doi.org/10.1002/humu.9405 https://doi.org/10.1002/humu.9405...
) |
p.Gly750Asp |
p.Gly216Arg |
(1717. Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab. 2000;85(2):658-65. https://doi.org/10.1210/jcem.85.2.6337. https://doi.org/10.1210/jcem.85.2.6337...
) |
p.Ala765Thr |
p.Leu272Phe |
(1717. Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab. 2000;85(2):658-65. https://doi.org/10.1210/jcem.85.2.6337. https://doi.org/10.1210/jcem.85.2.6337...
) |
p.Arg774His |
p.Leu341Met |
(1717. Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab. 2000;85(2):658-65. https://doi.org/10.1210/jcem.85.2.6337. https://doi.org/10.1210/jcem.85.2.6337...
) |
p.Leu812Pro |
p.Val731Met |
(1818. Jääskeläinen J, Mongan NP, Harland S, Hughes IA. Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome. Hum Mutat. 2006;27(3):291. https://doi.org/10.1002/humu.9405 https://doi.org/10.1002/humu.9405...
) |
p.Arg855Cys |
p.Arg856Leu |
(1717. Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab. 2000;85(2):658-65. https://doi.org/10.1210/jcem.85.2.6337. https://doi.org/10.1210/jcem.85.2.6337...
) |
p.Asp864Gly |
|
(1717. Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, et al. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab. 2000;85(2):658-65. https://doi.org/10.1210/jcem.85.2.6337. https://doi.org/10.1210/jcem.85.2.6337...
) |
LHCGR Luteinizing hormone/chorionic gonadotropin receptor ENST00000294954 NP_000224 |
p.Ile374Thr |
p.Ala57Thr |
(1919. Pals-Rylaarsdam R, Liu G, Brickman W, Duranteau L, Monroe J, El-Awady MK, et al. A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. Endocr Res. 2005;31(4):307-23. https://doi.org/10.1080/07435800500430890. https://doi.org/10.1080/0743580050043089...
) |
p.Thr392lle |
p.Ile103Lys |
(1919. Pals-Rylaarsdam R, Liu G, Brickman W, Duranteau L, Monroe J, El-Awady MK, et al. A novel double mutation in the luteinizing hormone receptor in a kindred with familial Leydig cell hypoplasia and male pseudohermaphroditism. Endocr Res. 2005;31(4):307-23. https://doi.org/10.1080/07435800500430890. https://doi.org/10.1080/0743580050043089...
) |
p.Phe194Val |
p.Tyr113His |
(2020. Themmen APN, Huhtaniemi IT. Mutations of gonadotropins and gonadotropin receptors: elucidating the physiology and pathophysiology of pituitary-gonadal function. Endocr Rev. 2000;21(5):551-83. https://doi.org/10.1210/edrv.21.5.0409. https://doi.org/10.1210/edrv.21.5.0409...
) |
p.Glu354Lys |
p.Ala118Glu |
(2121. Stavrou SS, Zhu YS, Cai LQ, Katz MD, Herrera C, Defillo-Ricart M, et al. A novel mutation of the human luteinizing hormone receptor in 46XY and 46XX sisters. J Clin Endocrinol Metab. 1998;83(6):2091-8. https://doi.org/10.1210/jcem.83.6.4855. https://doi.org/10.1210/jcem.83.6.4855...
) |
p.Leu502Pro |
p.Lys126Asn |
(2222. Leung MY, Al-Muslim O, Wu SM, Aziz A, Inam S, Awadh M, et al. A novel missense homozygous inactivating mutation in the fourth transmembrane helix of the luteinizing hormone receptor in leydig cell hypoplasia. Am J Med Genet A. 2004;130A(2):146-53. https://doi.org/10.1002/ajmg.a.20681. https://doi.org/10.1002/ajmg.a.20681...
) |
p.Met398Thr |
p.Lys137Asn |
(2323. Kraaij R, Post M, Kremer H, Milgrom E, Epping W, Brunner HG, et al. A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty. J Clin Endocrinol Metab. 1995;80(11):3168-72. https://doi.org/10.1210/jcem.80.11.7593421. https://doi.org/10.1210/jcem.80.11.75934...
) |
p.Leu547Arg |
p.Val144Leu |
(2424. Latronico AC, Abell AN, Arnhold IJ, Liu X, Lins TS, Brito VN, et al. A unique constitutively activating mutation in third transmembrane helix of luteinizing hormone receptor causes sporadic male gonadotropin-independent precocious puberty. J Clin Endocrinol Metab. 1998;83(7):2435-40. https://doi.org/10.1210/jcem.83.7.4968. https://doi.org/10.1210/jcem.83.7.4968...
) |
p.Asp564Gly |
p.Phe611Val |
(2525. Laue L, Chan WY, Hsueh AJ, Kudo M, Hsu SY, Wu SM, et al. Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty. Proc Natl Acad Sci U S A. 1995;92(6):1906-10. https://doi.org/10.1073/pnas.92.6.1906. https://doi.org/10.1073/pnas.92.6.1906...
) |
p.Ala568Val |
p.Cys543Tyr |
(2626. Latronico AC, Anasti J, Arnhold IJ, Mendonça BB, Domenice S, Albano MC, et al. A novel mutation of the luteinizing hormone receptor gene causing male gonadotropin-independent precocious puberty. J Clin Endocrinol Metab. 1995;80(8):2490-4. https://doi.org/10.1210/jcem.80.8.7629248. https://doi.org/10.1210/jcem.80.8.762924...
) |
p.Ile575Leu |
p.Gly504Ser |
(2727. Laue L, Wu SM, Kudo M, Hsueh AJ, Cutler GB Jr, Jelly DH, et al. Heterogeneity of activating mutations of the human luteinizing hormone receptor in male-limited precocious puberty. Biochem Mol Med. 1996;58(2):192-8. https://doi.org/10.1006/bmme.1996.0048. https://doi.org/10.1006/bmme.1996.0048...
) |