Table 1.
CECR1 mutations so far detected
| Mutation | Exon | HGVS sequence name | Aminoacid substitution | N° of patients | Enzymatic domain |
|---|---|---|---|---|---|
| M1T | 2 | c.2 T > C | Met1Thr | 1 in compound heterozygosis | Signal peptide |
| K13del | 2 | c.37_39del | 37_39del | 2 in compound heterozygosis | Signal peptide (?) |
| 28-kb-deletion | 2 | deletion | deletion | 1 in compound heterozygosis | 5′UTR (5′untranslated region) |
| G47R | 2 | c.139G > A | Gly47Arg | 27 in homozygosis | Dimerization |
| 1 in compound heterozygosis | |||||
| G47A | 2 | c.140G > C | Gly47Ala | 2 in compound heterozygosis | Dimerization |
| G47V | 2 | c.140G > T | Gly47Val | 1 in compound heterozygosis | Dimerization |
| I93T | 2 | c.278 T > C | Ile93Thr | 1 in compound heterozygosis | Dimerization |
| A109D | 3 | c.326C > A | Ala109Asp | 1 in compound heterozygosis | Catalytic |
| H112Q | 3 | c.336C > G | His112Gln | 1 in compound heterozygosis | Catalytic |
| T119A | 3 | c.355A > G | Thr119Ala | 4 in compound heterozygosis | Catalytic |
| G142S | 3 | c.424G > A | Gly142Ser | 4 in compound heterozygosis | Catalytic |
| R169Q | 3 | c.506G > A | Arg169Gln | 15 in homozygosis | PBR (putative receptor-binding) |
| 9 in compound heterozygosis | |||||
| P193L | 4 | c.578C > T | Pro193Leu | 1 in compound heterozygosis | Catalytic (?) |
| M243R | 4 | NA | Met243Arg | 2 in compound heterozygosis | Catalytic |
| P251L | 4 | c.752C > T | Pro251Leu | 4 in compound heterozygosis | Catalytic |
| W264S | 5 | c.791G > C | Trp264Ser | 1 in compound heterozygosis | Catalytic |
| R306* | 6 | c.916C > T | p.Arg306* | 1 in compound heterozygosis | Catalytic (?) |
| N328K | 7 | c.1159C > A | Cys1159Arg | 2 in compound heterozygosis | Catalytic |
| Y453C | 9 | c.1358A > G | Tyr453Cys | 3 in compound heterozygosis | Catalytic |
Legend: HGVS: Human Genome Variation Society
NA not available