Table 3.

Mutations in GHR relevant to sex-linked dwarfism (SLD) in chicken.

Location	Base Mutation	Defect	Mutation Type	Mechanism	References
Exon 5	c.335 T > C 1	F122S	Missense	Causes a large decrease in GH binding activity	[11]
	c.352+2 T > C		Splice site	Reduces GH binding activity	[11]
Exon 7	c. 679 G > T	S226I	Missense	Protein not expressed on the surface of hepatocytes	[10,47]
Exon 10 and 3’ UTR 2	c.1773 del 3		Frameshift	Lacks the target site for microRNA let-7b, which down-regulates the GHR expression level	[2,18]

¹ c.: coding sequence; ² UTR: untranslated region; ³ del: deletion.