Interleukin-17 receptor D (Sef) is a multi-functional regulator of cell signaling

Table 1 List of identified mutations in IL17RD occurring in diseased conditions

Disease association	Mutation	Type of mutation	Amino acid change	Inheritance	Zygosity	Citation
MTC	1385G > C	Missense	R462P			[53]
FDCS	T > C	Missense	I329T			[54]
KS	N/A	Missense	G35V		Heterozygous	[60]
KS	N/A	Missense	A221T		Heterozygous	[60]
KS, DP	392A > C*	Missense	K131T	de novo; AD	Heterozygous	[58, 61]
KS	485A > G	Missense	K162R	de novo	Heterozygous	[58]
nCHH, DP, KS	572C > T*	Missense	P191L	AD	Heterozygous	[56, 60, 61]
DP	N/A	Nonsense	W200X	AD	Heterozygous	[61]
KS	878C > T	Missense	P293L	AD	Heterozygous	[59]
KS	916C > T	Missense	P306S	de novo	Homozygous	[58]
KS	N/A	Missense	I329M		Heterozygous	[60]
KS	N/A	Missense	I329V		Heterozygous	[60]
KS	1136A > G	Missense	Y379C	AD	Heterozygous	[57, 58]
KS	1209G > A	Synonymous	G403G		Heterozygous	[58]
KS	1403C > T	Missense	S468L	AD	Heterozygous	[58]
nCHH	1592G > T	Missense	R531M		Heterozygous	[56]
nCHH	1608_1611del^#	Frameshift	E536fs	AD	Heterozygous	[59]
nCHH	1697C > T^#	Missense	P566L	AD	Homozygous	[59]
KS	1690 T > G	Missense	F564V		Heterozygous	[57]
KS	1730C > A	Missense	P577Q	AD	Homozygous	[58]
KS	2003C > T	Missense	S668F	AD	Heterozygous	[59]
KS	N/A*	Missense	S671L		Heterozygous	[60]
nCHH	2068 T > A	Missense	S690T		Heterozygous	[57]
KS	2204C > T	Missense	A735V	AD	Heterozygous	[58]
BAVM	676G > A	Missense	G226S	de novo	Heterozygous	[46]

^#Mutations present on same individual *present in > 1 individual within the same study

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