Table 1.

Functional characterization of CSF1R mutations in BANDDOS

gDNA mutation	Protein mutation	Protein location	Effect on signalling	Type of mutation	Reference
c.395C>T	p.P132L	Ig 2	50% reduction in JNK phosphorylation	Hypomorph	[10]
c.1441C>T	p.Q481*	Ig 5	none expected	Amorph (NMD)	[10]
c.1620T>A	p.Y540*	interdomain	none expected (TKD absent)	Amorph	[8]
c.1754–1G>C	p.G585_K619delinsA	TKD	n/a	n/a	[58]
c.1859–119G>A	p.S620delins40	TKD	90% reduction in JNK phosphorylation	Amorph	[10]
c.1879_1881del	p.K627del	TKD	50% reduction in JNK phosphorylation	Hypomorph	[10]
c.1929C>A	p.H643Q	TKD	n/a	Possibly hypomorph	[58]
c.1969+115_1969+116del	p.P658Sfs*24	TKD	n/a	Hypomorpha	[10]
c.2498C>T	p.T833M	TKD	20% phosphorylation retained at Y723	Hypomorph	[11]

^aThe alternatively spliced transcript undergoes nonsense-mediated RNA decay (NMD), however ~50% normal splicing is retained

n/a, data not available