Table 1 Summary of all known mutant alleles of the prolidase gene causing prolidase deficiency.

Exon	Intron	Mutation	Effect	Reference
	4	IVS4‐1G→C	delex5	Ledoux et al22
	6	IVS6‐2A→G	delex7	Ledoux et al22
	7	IVS7‐1G→A	Alternative splicing	Forlino et al23
8		611duplAGGCCCACCGTGA	Fs and premature Stop	*
8		551G→A	R184Q	Ledoux et al24
8		551C→T	R184X	Kikuchi et al25
10		691delTAC	231delY	Lupi et al26
	11	IVS11+1G→C	delex11	Forlino et al23
11		793C→T	R265X	Wang et al27
12		826G→A	D276N	Endo et al15 and *
12		833G→A	G278D	Ledoux et al24 and *
14		1234G→A	E412K	*
14		1342G→A	G448R	Ledoux et al,22 Forlino et al23 and *
14		del774bp	delex14	Tanoue et al28
15		1354delGAG	452delE	Ledoux et al22

*Mutant alleles characterised in the present paper.