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. Author manuscript; available in PMC: 2014 Oct 1.
Published in final edited form as: Hum Mutat. 2013 Aug 8;34(10):1329–1339. doi: 10.1002/humu.22380

Table 2. Frequently reported IL12RB1 mutations.

Mutation Effect on protein Reported in Location of patients or origin of their families
c.1791+2T>G aberrant splicing 27 patients from 17 families 3 different continents
c.1623_1624delinsTT p.Gln542X 17 patients from 15 families 3 different continents
c.783+1G>A aberrant splicing 17 patients from 12 families 11 families from Turkey, one from Russia
c.64+2T>G aberrant splicing 7 patients from 6 families 5 families from Turkey, one from Tunisia
c.264C>A p.Tyr88X 7 patients from 5 families all from Saudi Arabia
c.518G>C p.Arg173Pro 6 patients from 6 families all from Turkey
c.556T>A p.Cys186Ser 6 patients from 4 families all from Qatar