LGMD2A phenotypes, CAPN3 sequence variants, and <i>in</i><i>silico</i> predictions.

ACurrent age/age at biopsy (or genetic confirmation)/first symptoms noted, † = deceased, w = wheelchair, c = childhood; BPhenotypic classification into Erb (scapulohumeral), early pelvifemoral (≤12 y), classical pelvifemoral (Leyden-Möbius;13–29 y), late onset pelvifemoral (≥30 y), or asymptomatic phenotype (hyperCKemia); CCAPN3 exon/intron; DCAPN3 domains; EZygosity; FNovelty; GIn silico predictions of pathogenicity of missense mutations with SIFT (Uni-Prot TrEMBL 2009 Mar) and PolyPhen-2 (v2.2.2r398). Y = pathological; N = benign. Conservation of exchanged/deleted amino acids with UCSC genome browser (Human Feb. 2009 [GRCh37/hg19] Assembly) across 46 species. Effects of intronic mutations on pre-mRNA splicing with Human Splicing Finder program (version 2.4.1). $Mutation in 5′ end of intron 19 creates a cryptic splice site that is used instead of the regular site. #Mutation in 5′ end of intron 4 destroys donor splice site. ‡Mutation in 3′ end of intron 11 destroys the acceptor splice site. *Selected for further biochemical testing.