Table 4. Position specific score matrix (PSSM) analysis of the predicted p.L142R substitution in FRMD7

Differences in the physico-chemical properties of leucine (L) and arginine (R) are consistent with a nonconservative substitution. The negative PSSM value indicates that arginine substitutes for leucine at position 142 less frequently than expected among proteins containing the conserved FERM domain.