title: cDNA cloning and sequencing of the human ryanodine receptor type 3 (RYR3) reveals a novel alternative splice site in the RYR3 gene.
abstract: The human ryanodine receptor type 3 (RYR3) was cloned from a fetal brain cDNA library and its complete sequence was determined (EMBL accession number AJ001515). The sequenced cDNA spanned 15,564 bp and contained an open reading frame of 14,613 bp. The corresponding protein consisted of 4870 amino acids with a calculated molecular mass of 552 kDa. Amino acid sequence identities to the RYR3 proteins from rabbit, mink, and chicken were 96%, 95%, and 83% respectively. A previously unidentified alternative splice site was detected generating a transcript that lacked bases 11,569-11,650 and encoded a truncated protein.
authors.affiliation: Institute of Veterinary Medicine, University of Göttingen, Germany. tleeb@gwdg.de
authors.forename: T
authors.initials: T
authors.lastname: Leeb
authors.forename: B
authors.initials: B
authors.lastname: Brenig
mesh_terms: D017398:Alternative Splicing / Q000235:genetics*; D000818:Animals; D001921:Brain / Q000196:embryology*; D003001:Cloning, Molecular; D006801:Humans; D008969:Molecular Sequence Data; D016366:Open Reading Frames / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D019837:Ryanodine Receptor Calcium Release Channel / Q000737:chemistry*; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel