Introduction
Human epidermis is the outer most layer of the skin, which plays a protective role in daily life (>90%). Its main component is keratin (K), which is one of the largest gene families with 54 genes and divided into two types: type I (K9–K40/acidic) and type II (K1–K8, K71–K86/neutral or basic) keratins. Germline mutations of ten keratin genes have been reported for causing genodermatoses, including epidermolysis bullosa simplex (EBS), epidermolytic hyperkeratosis (EHK) and pachyonychia congenita (PC) (Lulevich, et al., 2010). However, target-based therapeutic intervention or development of precision medicine to cure these genodermatoses is remaining challenging (Atkinson, et al., 2011). Hence, for the incurability of keratin related genodermatoses, prenatal diagnosis is the best way to prevent the occurrence of such inheritance diseases. A comprehensive database focusing on the human genodermatoses and the mutation reports suggesting pathogenicity tendencies becomes indispensable for clinicians and patients to evaluate the outcomes of the mutation during the decision making.
In order to aid users quest a keratin gene variant to understand the molecular basis of genodermatoses and its genotype-phenotype correlation, we present a more comprehensive and detailed online database for human genodermatoses related keratin genes with an intuitive and user-friendly interface, namely KVarPredDB. We visualized our manually curated keratin gene variants, related diseases, and the analyses of changes in physico-chemical characteristics between the wild type and the mutant amino acids as well as protein structural effect on the keratin coiled-coil hetero-dimer complex for each variant. The resulting pathogenicity tendencies could be validated by means of in vivo/vitro experiments and could provide guidance to genetic counselor and clinicians for easy and accurate prenatal diagnosis.
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Chen Li:
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Santasree Banerjee: