Table 1.

Summary of Functional Characterization of New TRKA Mutations

NTRK1 mutation	TRKA protein	Full glycosylation	Membrane expression	Autophos‐phorylation	Y496 phos‐phorylation	PLCγ activation	Neurite outgrowth
c.1550G > A	p.G517E	No effect	No effect	No effect	No effect	Abolished	Reduced
c.1565G > A	p.G522E	No effect	No effect	Abolished	Abolished	Abolished	‐
c.1970T > C	p.L657P	Reduced	Reduced	Abolished	Abolished	Abolished	Abolished
c.2096T > C	p.I699T	Reduced	Reduced	Abolished	Abolished	Abolished	‐
c.2254T > A	p.C752S	No effect	No effect	No effect	No effect	No effect	No effect
c.2288G > C	p.C763S	Reduced	Reduced	Reduced	Reduced	Reduced	Reduced
c.2311C>T	p.R771C	Reduced	Reduced	Abolished	Abolished	Abolished	‐

GFP tagged constructs of wild‐type TRKA and each mutation were used to asses pathogenicity (RefSeq ID NM_002529.3, NP_002520).