Table 5. List of Single Nucleotide Polymorphisms, Detected during Direct Ryanodine Receptor Subtype 1 Transcript Sequencing
Reference sequences of the RYR1 transcripts were taken from the Genbank entries XM_009145 (column HGP), NM_000540 (column LS) and from Genbank SNP database (db_SNP). Other columns contain experimentally derived data from patients, each designated by a four-digit number. Other columns contain experimentally derived data from patients, designated by M1 (muscle RNA) and L1–L4 (leukocyte RNA). SIL denotes a functionally silent base substitution. ALT denotes a substition altering the amino acid, in which case the amino acid change is indicated in parentheses.
A = adenosine; C = cytosine; G = guanosine; R = A or G heterozygote; T = thymidine; Y = C or T heterozygote.