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

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)


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

Rozsa, Mol Vis 1998; 4:20 <>
©1998 Molecular Vision <>
ISSN 1090-0535