In Silico Analysis. Alamut v1.4 (http://www.interactive-biosoftware.com (accessed on 8 June 2022)); With respect to the missense mutation, the evaluation of the risk of pathogenicity was thus the result of the following individual tools integration: With respect to the intronic mutation, the integrated tools included: MaxEntScan; 4. Results. System Bet – comprises more than app da apple store para apostar na esporte net one accumulator bet of the same size. Chain – several single bets app da apple store para apostar na esporte net on irrelevant outcomes. ( b ) Patient n.1 intronic mutation HSD3B2 c.308-6 G>A. ( c ) Patient n.2 missense mutation HSD3B2 c.370 A>G.
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Na = Sodium. K = Potassium. Cl = Chloride. We decided to test the patient for HSD3B2 gene mutations in order to investigate a possible genetic cause for the presence of salt loss and incomplete masculinization in the absence of bone skeletal alterations that are characterized more frequently in POR deficiency. A high level of testosterone (1.3 ng/mL), measured on the third day of life, should reflect maternal hormonal interference. Patient n.2 was the older brother of patient n.1. At the time of clinical and biochemical screening, they were 2.5 years old. They were a full-term newborn (gestational age = 40 weeks), born after an uneventful pregnancy by vaginal delivery. Calculo de escada facil.
The missense mutation on exon 4 c.370 A>G, leading to serine substitution in position 124 with a glycine (p.Ser124Gly), was inherited from the father and never described in the literature. Alamut: variant of uncertain significance (PM1, PM2, BP4); Franklin: variant of uncertain significance, likely pathogenic (PM2, PM1 e PP2). Table 3. Predictor Outcome metal Damaging (score: 0.8606) REVEL Pathogenic (score: 0.6129) DEOGEN2 Damaging (score: 0.6196, 0.7482) FATHMM Damaging (score: −3.44) M-CAP Damaging (score: 0.1732) MVP Pathogenic (score: 0.9976) MutPred Pathogenic (score: 0.935) Mutation assessor High (score: 3.86) PROVEAN Damaging (score: −3.02, −3.49) SIFT4G Damaging (score: 0.002, 0.003) PolyPhen2 HDivPred = probably damaging (score: 0.986)/HVarPred = possibly damaging (score: 0.898) EIGEN Neutral (score −0.1586) LRT Neutral (score 0.06347) Mutation taster Polymorphism (score: 0.9774) PrimateAI Tolerated (score 0.3522) 4.2. HSD3B2 c.308-6 G>A. MaxEnt: −67.1% 5. Discussion. The first variant found in the two siblings was inherited from the healthy father and was on exon 4 (c.370 A>G), resulting in a missense mutation leading to the change of serine in position 124 to a glycine. The in silico analysis revealed a probable damaging effect of this variant: residue p.Ser124 indeed is highly conserved among species and seems to be located in the catalytic site of the enzyme, playing a pivotal role in NAD(H) binding to its substrate [20].
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