Patient | Fibroblast-like synoviocytes | Synovial tissue | ||
---|---|---|---|---|
Mutation | Frequency | Mutation | Frequency | |
RA10 | Codon 119 GCC>ACC (Ala>Thr) | 1/10 | Codon 196 CGA>TGA (Arg>stop) | 1/12 |
Codon 178 CAC>AC (deletion) | 1/10 | |||
Codon 223 CCT>CAT (Pro>His) | 1/10 | |||
Codon 360 GGG>AGG (Gly>Arg) | 1/10 | |||
Long deletion codon 143 – codon 220 | 1/10 | |||
Codon 213 CGA>CGG (Arg>Arg) | 5/10a | Codon 213 CGA>CGG (Arg>Arg) | 6/12 | |
RA11 | Codon 307 GCA>GCT (Ala>Ala) | 2/9 | Codon 147 GTT>ATT (Val>IIe) | 1/12 |
Deletion codon 304 – codon 337 | 1/9 | Codon 225 GTT>GTG (Val>Val) | 1/12 | |
RA12 | Codon 355 GCT>GCC (Ala>Ala) | 1/12 | Codon 213 CGA>CAA (Arg>Gln) | 1/11 |
Codon 213 CGA>CGG (Arg>Arg) | 1/11 | |||
Codon 269 AGC>AAC (Ser>Asn) | 1/11 | |||
RA13 | Codon 134 TTT>CTT (Phe>Leu) | 1/12 | None | 0/11 |
Codon 216 GTG>ATG (Val>Met) | 1/12 | |||
Codon 249 AGG>GGG (Arg>Gly) | 3/12 |