SLC34A2 mutations described in pulmonary alveolar microlithiasis patients and literature references
| Location | Mutation | Protein | First author, year [ref.] | Patient number in the paper |
| Promoter exon 1 | c.[-6773_-6588del] | Not synthesised | Corut, 2006 [1] | 1 |
| Exon 2 | insT (not specified) | Truncation | Dogan, 2010 [34] | 1 |
| Exon 2–6 | 5.5 Kb deletion | Truncation | Hishihara, 2008 [33] | 1 |
| Exon 3 | c.114delA | Truncation | Corut, 2006 [1] | 3, 5 |
| Exon 3 | c.226C→T | Truncation | Corut, 2006 [1] | 7 |
| Exon 4 | c.316G→C (p. G106R) | Substitution | Corut, 2006 [1] Özbudak, 2012 [36] | 6 1 |
| Exon 6 | c.575C>A (p.T192K) | Substitution | Ma, 2014 [26] | 1–3 |
| Exon 7 | insdel857-871 | Truncation | Huqun, 2007 [2] | 3, 5 |
| Exon 8 | C.910A>T | Truncation | Zhong, 2009 [32] Yin, 2013 [37] Wang, 2014 [27] | 1 1–4 1 |
| Exon 8 | IVS8+1G>A | Truncation by splicing failure | Huqun, 2007 [2] | 1, 2, 4, 6 |
| Exon 11 | c.1328delT | Truncation | Corut, 2006 [1] | 2 |
| Exon 12 | c.1342delG | Truncation | Corut, 2006 [1] | 4 |
| Exon 12 | c.1363T>C (p. Y455H) | Substitution | Wang, 2014 [27] | 1 |
| Exon 12 | c.1393-1404delACC | Aberrant (threonine deletion) | Jönsson, 2012 [35] | 1 |
| Exon 12 | c.1402-1404delACC | Aberrant (threonine deletion) | Jönsson, 2012 [35] | 2 |
| Exon 12 | c.1456C>T | Truncation | Proesmans, 2012 [38] | 1 |