Table 1  MAF Mutations Identified in Individuals with Aymé-Gripp Syndrome
Subject   Reference   Nucleotide Change a   Amino Acid Change a   Protein Domain   Inheritance   Functional Impact (Radial SVM Score/ CADD Score)
1 (19474)  2  c.161C>T  p.Ser54Leu  TD  De novo  1.10/16.27
2 (11-1)  1  c.172A>G  p.Thr58Ala  TD  De novo, germline  0.83/16.07
3 (4-1)  1  c.206C>G  p.Pro69Arg  TD  De novo, germline  0.98/15.49
4 (ICN_ICW)  5  c.173C>T  p.Thr58Ile  TD  Not availableb  0.93/15.38
5 (14-1)  4  c.176C>A  p.Pro59His  TD  De novo  1.10/17.69
5 (10-1)  p.s.  c.176C>T  p.Pro59Leu  TD  De novo  0.98/9.08
7 (962112)  p.s.  c.185C>G  p.Thr62Arg  TD  De novo  1.10/17.88
8 (CaGi_UCSC)  p.s.  c.161C>T  p.Ser54Leu  TD  De novo, germline  1.10/16.27
p.s., present study; TD, transactivation domain.
a  Nucleotide and amino acid positions refer to transcript variant 1 and protein isoform a (longer isoform) (NM_005360.4, NP_005351.2).
b  Parental DNAs were not available for molecular analyses.