Table 3 of
Rozsa, Mol Vis 4:20, 1998.
Table 3. Co-segregation and Predicted Protein changes in seven TIGR mutations
Mutation Identified Gly252Arg Glu323Lys Tyr347Tyr Thr325Thr Pro370Leu Val426Phe Ile477Asn in Pedigree Proband Pedigree UM:JG5 UM:GL57 UM:GL5 UM:GL7 UM:JG1 UM:JG3 UM:JG2 Fraction of affected 1/1 11/11 1/1 5/5 15/15 12/12 15/15 family members with mutation Co-Segregation? ND Yes No No Yes Yes Yes Fraction of examined 0/43 0/43 3/43 1/43 0/43 0/43 0/48 normals with mutation Changes in charge +1 +2 NA NA None None None Structure changes Strand to None NA NA Loss of None Gain of helix (CF) turn (GOR) turn (GOR) Motifs near mutation GAG None None None CK2 cAPK CK2 (238-241) (377-380) (422-425) (475-478) PKC (256-258) Source This work This work This work This work This work This work Ref. 28 ---- ND: Not determined; NA:Not applicable; GOR: Garnier-Osguthorpe-Robson; CF: Chou-Fasman algorithm; CK2: Casien kinase II phosphorylation site; cAPK: cAMP-dependent protein kinase phosphorylation site; PKC: Protein kinase C phosphorylation site; GAG: Glycosaminoglycan initiation site