Zhao Y, Pan-Hammarstrom Q, Zhao Z, Wen S, Hammarstrom L. “Selective IgG2 deficiency due to a point mutation causing abnormal splicing of the Cgamma2 gene.” Int Immunol. 2005 Jan;17(1):95-101. Epub 2004 Nov 29.
In the paper no binding factors where mentioned.
The motif is at the 5’ site of intron 1.
The mutated form of the motif leads to the use of a cryptic splicing site in the CH1 exon, thus deleting a 16 nt sequence in the mRNA (GTGGACAAGACAGTTG). This causes a frameshift in the reading of downstream sequence and leads to an early stop codon and to a non-functional form of the protein. The patients with the mutated form of the motif have deficiencies in IgG2.
Mutated regulatory sequence: gtggg