1. Mutations in the steroid 5α-reductase 2 gene and protein
Mutations in the steroid 5α-reductase 2 gene and protein. A schematic diagram of the 5α-reductase 2 gene is shown in the middle. On the left are the locations of 45 different mutations, and the sites of several recurring mutations are shown on the right. (NG represents the deletion of the gene in the New Guinea cohort. The initiating methionine is designated Met in exon 1, and the normal termination codon is designated with an asterisk in exon 5.) The various mutations have been reported as follows: G34R,G→A,117, 126, 127 G34R,G→C,117, 126 L55Q117, 126, 128, 129 Q56R,117, 126 P59R,126 Y91D,126 R103*,126, 359ΔTC,117 l112N,128, 130 G115D,117, 126, 127, 131 Q126R,117, 126, 128, 130, 132, 133 R145W,126 M157Δ,128, , 136 D164V,117, 126, 132 R168C,132 R171S,117, 126 P181L,126 G183S,117, 120, 126, 131, 132 N193S,117, 126, 133 G196S,117, 126, 128, 130, 135 E197D,117, 126 E200K,137 G203S,127 A207D,117, 126, 127 L224P,117, 126 R227Q,128, 130, 135 R227*,117, 132, 138 A228T,128, 130, 135 H230P,126 H231R,117, 126, 128, 130, 133, ,G→T,117, 120 Y235F,126, R246W,117, 120, 121, 126, 131, 132, 140 R246Q,117, 121, 126 *255Q,132, 141 ΔNG.12 Several of these mutations are being reported for the first time: A49T, W53*, W53G, I112R, ΔG443, 458insA, Y235H, A248D (D Davis, DW Russell, unpublished observations.)
Source: The Androgen Resistance Syndromes: Steroid 5α-Reductase 2 Deficiency, Testicular Feminization, and Related Disorders, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: November 03, 2017
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