Rabl3^xm

An A-to-G mutation 7 nucleotides upstream of the 3' end of exon 2 changes splicing: a cryptic G-GT splice donor site 12 bp upstream of the regular A-GT donor site is used, causing the loss of 12 bp (GTGGaTATCAGA, with the mutated nucleotide in lower case) in mature transcripts and the corresponding 4 amino-acids (43-46: VDIR) in the encoded peptide. (J:287198)