Computational analysis of deleterious SNPs of SLC45A2 involved in oculocutaneous albinism type 4

Oculocutaneous albinism type 4 (OCA4) is a form of inborn errors of metabolism leading to absence of pigmentation or hypopigmentation in the skin, hair and eyes. A membrane associated transporter protein (MATP) coded by Solute carrier family 45, member 2 (SLC45A2) is found to be directly linked with the disease phenotype. In this study, we categorized deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) for this gene from the available Ensembl data. We predicted the native protein model for MATP using threading methodology and subsequently incorporated the amino acid changes corresponding to the deleterious nsSNPs to develop mutant models. Subsequently, stability and structural differences of the predicted models were analyzed. We identified 3 nsSNPs corresponding to G44R, G110R and A486V amino acid changes, to potentially damage the transmembrane helices of the protein and these nsSNPs have also been reported in OCA4 patients.