Table 3 of Gao, Mol Vis 4:16, 1998.

Table 3. Sequence variants present in the GNB3 and GNGT2 genes

Variant(s)            Patients                 Other Variants

GtoA in intron 4      AR-CRD, simplex MD       none found
of GNB3

Gly272Ser/GNB3        Mixed Diagnoses
                      7/164 patients           none found
                      1/30 controls

Ser275Ser/GNB3        Mixed Diagnoses
                      48/164 patients          none found
                      9/30 controls

Ser275Ser/GNB3        Mixed Diagnoses
                      5/164 patients           Gly272Ser
                      1/30 controls

GtoT upstream of      Mixed Diagnoses
transcription         5 AR and 1 Simplex       none found
start site GNGT2      1/51 controls

GtoT upstream of      AR-MD                    GtoA in intron 4/GNB3
transcription                                  Gln17Arg/GNGT2
start site GNGT2

GtoT upstream of      AR-CRD                   G insert in intron 4/GNB3
transcription                                  C deletion downstream
start site GNGT2                                 of stop/GNGT2

C deletion            AR-CRD, simplex CRD      none found
downstream of         0/51 controls

Leu11Phe/GNGT2        simplex- CRD             none found
                      1/51 controls

Gln17Arg/GNGT2        Mixed Diagnoses          none found
                      2 AR and 6 Simplex
                      4/51 controls

Gao, Mol Vis 1998; 4:16 <>
©1998 Molecular Vision <>
ISSN 1090-0535