. 2012 Aug 13;7(8):e43205. doi: 10.1371/journal.pone.0043205

Table 1. GALNT3 mutations identified in familial tumoural calcinosis (FTC) and hyperostosis-hyperphosphataemia syndrome (HHS) patients.

No.^a	Mutation^b	Codon	Predicted effect^c	Clinical disorder^d	References
	Exon 1
1	c.T2A	1	p.Met1, loss of start codon	HHS	[17]
2	c.42_57 del	14	p.Arg14Ser fsX26	FTC	[22]
3	c.C484T	162	p.Arg162X	FTC	[6], [7]
4	c.G485A	162	p.Arg162Gln	FTC	[16]
	Exon 2
5	c.516–2A>T → skip	173	p.Cys173Leu fs176 X	FTC	[5], [7]
6	c.677delC	226	p.Ala226Val fs228X	FTC	[16]
	Exon 3
7	c.803–804insC	269	p.Thr269Asn fs281X	HSS	[23]
8	c.C815A	272	p.Thr272Lys	FTC	[14]
	Exon 4
9	c.G839A	280	p.Cys280Tyr	HHS	[17]
10	c.A842G	281	p.Glu281Gly	FTC/HHS	[3]
11	c.T966G	322	p.Tyr322X	FTC	[20]
	Exon 5
12	c.C1076A	359	p.Thr359Lys	FTC	[14]
13	c.T1097G	366	p.Leu366Arg	FTC/HHS	[3]
14	c.1102–1103 insT	368	p.Ser368Phe fs371X	FTC	[8]
	Exon 6
15	c.T1245A	415	p.His415Gln	FTC	[18]
16	c.G1313A	438	p.Arg438His	HHS	[15]
17	c.C1312T	438	p.Arg438Cys	FTC/HHS	[18], [19]
18	c.A1387T	463	p.Arg463X	FTC	[21]
	Exon 7
19	c.C1441T	481	p.Gln481X	FTC	[20]
20	c.G1460 A	487	p.Trp487X	FTC	[8]
21	c.1524+1G>A→ skip exon7	464	Del 44aa at codons 464–508	FTC, HHS, FTC/HHS	[6], [24], [25]
22	c.1524+5G>A→ skip exon7	464	Del 44aa at codons 464–508	FTC	[6]
	Exon 8
23	c.1626+1G>A→ skip exon8	509	Del 34aa at codons 509–542	HHS	[23]
	Exon 9
24	c.T1720G	574	p.Cys574Gly	FTC	[16]
25	c.C1774T	592	p.Gln592X	FTC	[9], [19]

The locations of these mutations are illustrated in Figure 1.

Nucleic acid change at base pair in the cDNA sequence (Genbank accession number NM_004482.3); del, deletion; skip, exon skipping; and ins, insertion.

aa, amino acid; del, deletion; fs, frameshift. Mutations 2, 4, 5, 6, 14, 15, 16, 17, 18, 20, 21, 24 and 25 were identified as homozygotes. Of these, mutations 5, 14, 17, 21 and 25 were also identified in other patients as compound heterozygotes. Compound heterozygous mutations were identified in the following combinations: 1+9, 3+5, 3+21, 7+23, 8+12, 10+14, 11+19, and 17+25.

FTC, familial tumoural calcinosis; HHS, hyperostosis-hyperphosphataemia syndrome.