Table 2. Multiple mutations in individual codons.
| Residue number | DNA change | Protein change | Phenotype |
|---|---|---|---|
| 465 | c.1393G>C | p.(Gly465Arg) | PSACH |
| c.1393G>A | p.(Gly465Ser) | PSACH | |
| c.1394G>A | p.(Gly465Asp) | PSACH | |
| c.1394G>T | p.(Gly465Val) | PSACH | |
| 473 | c.1417G>T | p.(Asp473Tyr) | PSACH |
| c.1417G>A | p.(Asp473Asn) | PSACH | |
| c.1417G>C | p.(Asp473His) | PSACH | |
| c.1418A>G | p.(Asp473Gly) | PSACH | |
| 482 | c.1444G>A | p.(Asp482Asn) | MED |
| c.1444G>C | p.(Asp482His) | PSACH | |
| c.1445A>G | p.(Asp482Gly) | PSACH | |
| 518 | c.1552G>A | p.(Asp518Asn) | PSACH |
| c.1552G>C | p.(Asp518His) | PSACH | |
| c.1553A>G | p.(Asp518Gly) | PSACH |
Abbreviaitions: MED, multiple epiphyseal dysplasia; PSACH, pseudoachondroplasia.
The details of mutations found at four COMP codons that result in the substitution of at least three different amino acids. Exon gene nomenclature is classified according to Genebank accession number NM_000095.2 for COMP with nucleotide 1 as the first nucleotide of translation.