Reported metal binding site and GLOW syndrome mutations in the RNase IIIb domain of DICER-1 and associated phenotypes
| Reference | Coordinates | Protein | Phenotype | S/G/M |
|---|---|---|---|---|
| This study 1 | c. 5138A>T | p.Asp1713Val (D1713V) | GLOW syndrome | M |
| This study 2 | c. 5125G>T | p.Asp1709Tyr (D1709Y) | GLOW syndrome | M |
| Wu et al | c.5138A>C | p.Asp1713Ala (D1713A)LOH | Wilms Tumour | S |
| Heravi-Moussavi | c.5113G>A | p.Glu1705Lys (E1705K) | SLCT | S |
| Heravi-Moussavi | c.5125G>A | p.Asp1709Asn (D1709N) | SLCT | S |
| Heravi-Moussavi | c.5126A>G | p.Asp1709Gly (D1709G) | SLCT | S |
| Heravi-Moussavi | c.5127T>A | p.Asp1709Glu (D1709E) | SLCT | S |
| Heravi-Moussavi | c.5428G>C | p.Asp1810His (D1810H) | SLCT | S |
| Heravi-Moussavi | c.5428G>T | p.Asp1810Tyr (D1810Y) | SLCT | S |
| Heravi-Moussavi | c.5428G>A | p.Asp1810Asn (D1810N) | SLCT | S |
| Heravi-Moussavi | c.5437G>C | p.Glu1813Gln (E1813Q) | SLCT | S |
| Heravi-Moussavi | c.5438A>G | p.Glu1813Gly (E1813G) | SLCT | S |
| Heravi-Moussavi | c.5437G>A | p.Glu1813Lys (E1813K) | SLCT | S |
| Heravi-Moussavi | c.5126A>G | p.Asp1709Gly (D1709G) | Juvenile granulosa-cell tumour | S |
| Heravi-Moussavi | c.5125G>A | p.Asp1709Asn (D1709N) | Yolk sac tumour | S |
| Heravi-Moussavi | c.5127T>A | p.Asp1709Glu (D1709E) | Yolk sac tumour | S |
| Heravi-Moussavi | c.5428G>T | p.Asp1810Tyr (D1810Y) | Mature teratoma | S |
| Witkowski | c.5113G>A | p.Glu1705Lys (E1705K) | SCST | S |
| Witkowski | c.5125G>A | p.Asp1709Asn (D1709N) | SLCT | S |
| Witkowski | c.5428G>T | p.Asp1810Tyr (D1810Y) | Mixed* | S |
| Witkowski | c.5429A>T | p.Asp1810Val (D1810V) | SLCT | S |
| Witkowski | c.5437G>A | p.Glu1813Lys (E1813K) | SLCT | S |
| Witkowski | c.5437G>C | p.Glu1813Gln (E1813Q) | SLCT | S |
| Witkowski | c.5437G>C | p.Glu1813Gln (E1813Q) | SLCT | S |
| Witkowski | c.5439G>C | p.Glu1813Asp (E1813D) | SLCT | S |
*, Germ cell tumor with components of immature teratoma and yolk sac tumor.
G, germline mutation; LOH, loss of heterozygosity mutation; M, mosaic mutation; S, somatic mutation; SCST, Sex-cord stromal tumour; SLCT, Sertoli-Leydig cell tumour. GLOW syndrome mutations described in this report in bold.