Ontology Term : Pfam:PF12589 Methyltransferase involved in Williams-Beuren syndrome EMBL-EBI

Description  This domain family is found in eukaryotes, and is typically between 72 and 83 amino acids in length. The family is found in association with Pfam:PF08241. This family is made up of S-adenosylmethionine-dependent methyltransferases [1]. The proteins are deleted in Williams-Beuren syndrome (WBS), a complex developmental disorder with multisystemic manifestations including supravalvular aortic stenosis (SVAS) and a specific cognitive phenotype [2].
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55 Data Sets

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