TABLE 1.
COL3A1 no‐glycine substitutions and relative phenotype as described in literature
| Mutation | References | Sex | Age | Phenotype | Familiarity | Relatives |
|---|---|---|---|---|---|---|
| E241K | Angwin et al., (2020) | F | 30 | vEDS | sporadic | |
| E241K | Ghali et al., (2019) | F | 33 | cEDS | sporadic | |
| E241K | Ghali et al., (2019) | M | 54 | cEDS | sporadic | |
| R271Q | Frank et al., (2015) | F | 45 | vEDS | sporadic | |
| R271Q | Frank et al., (2015) | F | 47 | vEDS | sporadic | |
| N389Y | Frank et al., (2015) | F | 44 | vEDS | familial | Family 1 |
| N389Y | Frank et al., (2015) | F | 49 | vEDS | familial | Family 2 |
| N389Y | Frank et al., (2015) | F | 70 | vEDS | familial | Family 3 |
| E682K | Ghali et al., (2019) | M | 50 | vEDS/cEDS | familial | Family 4 |
| E682K | Ghali et al., (2019) | M | 73 | EDS | familial | Family 4 |
| E682K | Ghali et al., (2019) | F | 65 | EDS | familial | Family 4 |
| E682K | Ghali et al., (2019) | M | 74 | EDS | familial | Family 4 |
| E682K | Ghali et al., (2019) | M | 3 | EDS | familial | Family 4 |
| E682K | Ghali et al., (2019) | F | 35 | cEDS | familial | Family 4 |
| E682K | Ghali et al., (2019) | M | 44 | cEDS | familial | Family 4 |
| E682K | Ghali et al., (2019) | F | 8 | EDS | familial | Family 4 |
| E682K | Ghali et al., (2019) | F | 5 | EDS | familial | Family 4 |
| E682K | Ghali et al., (2019) | M | 37 | vEDS | sporadic | |
| E682K | Ghali et al., (2019) | F | 22 | cEDS | familial | Family 5 |
| E682K | Ghali et al., (2019) | F | 14 | EDS | familial | Family 5 |
| E682K | Ghali et al., (2019) | M | 50 | cEDS | familial | Family 5 |
| P806L | Weerakkody et al., (2016) | F | 38 | vEDS / hEDS overlap | sporadic | |
| R1082Q | Frank et al., (2015) | M | 60 | vEDS | sporadic | |
| E1171K | Frank et al., (2015), Henneton et al., (2019), Ghali et al., (2019) | M | 22 | vEDS | sporadic | |
| E1171K | Angwin et al., (2020) | M | 25 | vEDS | sporadic | |
| E1171K | Angwin et al., (2020) | F | 49 | vEDS | sporadic | |
| E1171K | Ghali et al., (2019) | F | 53 | cEDS | familial | Family 6 |
| E1171K | Ghali et al., (2019) | M | 27 | cEDS | familial | Family 6 |
| A1203T | Frank et al., (2015) | F | 54 | vEDS | sporadic | |
| P1258S | Frank et al., (2015) | F | 51 | vEDS | familial | Family 7 |
| P1258S | Frank et al., (2015) | M | 21 | asymptomatic relative | familial | Family 7 |
| A1259T | Frank et al., (2015) | F | 43 | vEDS | familial | Family 8 |
| P1270T | Frank et al., (2015) | F | 17 | vEDS | familial | Family 9 |
| P1270T | Frank et al., (2015) | F | 45 | asymptomatic relative | familial | Family 9 |
| K1273R | Frank et al., (2015) | F | 48 | vEDS | familial | Family 10 |
| K1273R | Frank et al., (2015) | F | 55 | vEDS | familial | Family 10 |
| K1273R | Frank et al., (2015) | F | 45 | vEDS | sporadic | |
| D1288V | Kerwin et al., (2008) | — | — | vEDS | — | |
| K1313R | Stembridge et al., (2015) | F | 30 | benign hypermobility | familial | Family 11 |
| K1313R | Frank et al., (2015) | F | 38 | vEDS | sporadic | |
| R1432L | Stembridge et al., (2015) | M | 39 | vEDS | familial | Family 12 |
| R1432L | Stembridge et al., (2015) | F | hEDS | familial | Family 12 | |
| P1440L | Weerakkody et al., (2016) | F | 26 | vEDS | sporadic | |
| P1440L | Stembridge et al., (2015) | F | 27 | vEDS | sporadic | |
| P1440L | Morissette et al., (2014) | F | 41 | vEDS | sporadic |
Abbreviations: cEDS, classical EDS; EDS, not specified EDS subtype; hEDS, hypermobile EDS; vEDS, vascular EDS.