p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche

Figure 1

(a) Multiple amino acid alignment of CYP21A2 protein adapted from UniProt protein family members. Val282, as indicated in the box, is a highly conserved amino acid among different species. Also, Gln319 (known as Gln318) is depicted in the diagram. The determination of I-helix and J-helix (second structure) is shown in this figure within the box [21]. Panel (b) is a structural analysis based on Phyre2 software. The first line is amino acid sequence (UniProt P08686) of CYP21A2. The second line shows the secondary structure prediction, which is determined as alpha helix, with high confidence value (third line). Homology model was based on d3czha1 (Cytochrome P450) template with 100% confidence and the amino acid change in the fourth line (in comparison) is disordered which means it is not dynamic, with low confidence.

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