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Gene name: ABCD4
Protein name: Lysosomal cobalamin transporter ABCD4
Disease: Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) , Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ)

The PirePred server

is an interpretation tool designed for clinicians interested in the genotype/phenotype relationships of clinical variants found in 58 genes related to conditions investigated in neonatal screening programs.

Missense, nonsense and frameshift single nucleotide variants (SNVs) annotated in the ClinVar database are retrieved in real time and presented in the structural context of the original protein. For each variant, binary classifications (Benign/Pathogenic) obtained from 15 popular predictors are shown, together with a consensus ternary classification (Benign/VUS/Pathogenic).

Alternatively, you can also see predictions for all possible single amino acid variants (SAVs) arising from SNVs in these genes.

Disclaimer. This resource is intended for research purposes only. PirePred classification is computational supporting evidence as defined by the ACMG guidelines. The authors are not responsible for its use or misuse and assume no liability or responsibility for any error, weakness, incompleteness or temporariness of the resource and of the data provided.

Citation. If you find PirePred helpful for your research, please cite the following article: Galano-Frutos JJ, García-Cebollada H, López A, Rosell M, de la Cruz X, Fernández-Recio J, Sancho J. (2022). PirePred: An Accurate Online Consensus Tool to Interpret Newborn Screening Related Genetic Variants in Structural Context. J. Mol. Diagn. 24(4): 406−425. DOI: 10.1016/j.jmoldx.2022.01.005

Proyecto Cofinanciado al 65% por el Fondo Europeo de Desarrollo Regional (FEDER) a través del Programa Interreg V-A España-Francia-Andorra. Projet Co-financé à hauteur de 65% par le Fonds Européen de Développement Régional (FEDER) dans le cadre du Programme Interreg V-A Espagne-France-Andorre.

PirePred © 2020 Javier Sancho's Lab. All Rights Reserved.