Performance of in silico analysis in predicting the effect of non-synonymous variants in inherited steroid metabolic diseases

Steroids

Volumn 78, Issue 7, 2013, Pages 726-730

  Chan, Angel O K ^a  

^a QUEEN MARY HOSPITAL   (Hong Kong)

Author keywords

Amino acid substitutions; Bioinformatics; Mutation; Single nucleotide polymorphism

Indexed keywords

7 DEHYDROCHOLESTEROL REDUCTASE; ALDOSTERONE SYNTHASE; AROMATASE; CHOLESTEROL MONOOXYGENASE (SIDE CHAIN CLEAVING); CYTOCHROME; CYTOCHROME P450 11B1; CYTOCHROME P450 17A1; CYTOCHROME P450 21A2; HYDROXY DELTA 5 STEROID DEHYDROGENASE 3 BETA AND STEROID DELTA ISOMERASE 2; HYDROXYSTEROID(11 BETA)DEHYDROGENASE 2; HYDROXYSTEROID(17 BETA)DEHYDROGENASE 3; OXIDOREDUCTASE; P450 CYTOCHROME OXIDOREDUCTASE; STEROID 5 ALPHA REDUCTASE ALPHA POLYPEPTIDE 2 (3 OXO 5 ALPHA STEROID DELTA 4 DEHYDROGENASE ALPHA 2); UNCLASSIFIED DRUG;

ARTICLE; COMPUTER MODEL; GENE SEQUENCE; GENETIC VARIABILITY; INTERMETHOD COMPARISON; METABOLIC DISORDER; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMORPHISM PHENOTYPING; PREDICTIVE VALUE; SENSITIVITY AND SPECIFICITY; SORTING INTOLERANT FROM TOLERANT; STEROID METABOLISM;

AMINO ACID SUBSTITUTION; COMPUTATIONAL BIOLOGY; METABOLIC DISEASES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84878244864     PISSN: 0039128X     EISSN: 18785867     Source Type: Journal    
DOI: 10.1016/j.steroids.2013.04.002     Document Type: Article

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