Table 1.
Mutations leading to RCM type II
| Mutation type | Codon change | Amino acid change | Exon/Intron | Publication |
|---|---|---|---|---|
| Missense/Nonsense | c.129C > A | Tyr42Term | Exon 2 | 17 |
| Missense/Nonsense | Unknown | Lys111Met | Exon 4 | 6 |
| Missense/Nonsense | c.287C > A | Pro95His | Exon 4 | 17 |
| Missense/Nonsense | c.247C > T | Arg83Ter | Exon 4 | 10 |
| Missense/Nonsense | c.229C > T | Gln77Ter | Exon 4 | 1 |
| Missense/Nonsense | Unknown | Gly76Ser | Boundary of Exon 4 and Exon 5 | 20 in a type I/6 |
| Missense/Nonsense | Unknown | Leu131Pro | Exon 5 | 6 |
| Missense/Nonsense | c. 382T > C | Ser127Pro | Exon 5 | 12 |
| Missense/Nonsense | c. 379A > G | Met127Val | Exon 5 | 13 |
| Missense/Nonsense | c.478C > T | Arg160Ter | Exon 6 | 1 |
| Missense/Nonsense | c.608G > A | Cys203Tyr | Exon 7 | 16–first reported in Wang 1999 in RCM Type I |
| Missense/Nonsense | c.610T > C | Cys204Arg | Exon 7 | 30 |
| Missense/Nonsense | c.705G > A | Trp235Term | Exon 8 | 16 |
| Missense/Nonsense | A > G (position unknown) | Arg240Gly | Exon 8 | 29 |
| Missense/Nonsense | c.655C > T | Arg219Ter | Exon 8 | 30 |
| Missense/Nonsense | c.708G > A | Trp236Ter | Exon 8 | 31, 32 |
| Missense/Nonsense | c.757G > A | Val253Met | Exon 9 | 13 |
| Missense/Nonsense | c.173C > G | Arg58Pro | Unknown | 22 |
| Splice site | IVS 2 ds + 1 G > A | Unknown | Intron 2 | 6 |
| Splice site | IVS 4 as ‐2 A > G | Loss of exon5 | Intron 4 | 13 |
| Splice site | IVS 5 ds + 2 T > C | Mis‐splicing of exon 5 | Intron 5 | 33 |
| Splice Site | IVS 5 ds + 8 G > C | Loss of exon 5 | Intron 5 | 30; also reported in 8 |
| Splice site | IVS 5 as ‐2 A > C | Loss of exon 6 | Intron 5 | 19 |
| Splice site | IVS 5 ‐2 A > C | Loss of exon 6 | Intron 5 | 18 |
| Splice site | IVS 8 as ‐1 G > T | Mis‐splicing of exon 9 | Intron 8 | 26 |
| Deletion | c.215delG | Gly72AlafsTer | Exon 3 | 11 |
| Deletion | Unknown | Lys173‐Ser174‐Val175del | Exon 6 | 31, 32 MGM |
| Deletion | c.815_817del | Met272del | Exon 9 | 30 |
| Deletion | c.895_897del | Phe298del | Exon 9 | 25, 28 |
| Deletion | c.562_564del | Leu188del | Unknown | 22 |
| Small insertion/Deletion | c. 882_884delinsAA | Thr295fsTer | Exon 9 | 14 |
| Gross deletion | c.22 1320_633 + 1224del | Unknown | Exons 2–7 | 9 |