Table 1.
| COL4A1 | COL4A2 | ||||
|---|---|---|---|---|---|
| Occurances | Locations | Occurances | Locations | ||
| Start codon | Met substitution | 1 | 1 | 0 | 0 |
| Triple helical domain | Gly of Gly-Xaa-Yaa motif | 68 | 50 | 6 | 6 |
| Arg (30), Glu (11), Asp (10), Ser (7), Val (5), Ala (3), Leu (1), Ter (1) | Arg (2), Glu (2), Asp (2) | ||||
| Yaa of Gly-Xaa-Yaa motif | 3 | 3 | 0 | 0 | |
| Pro to Leu, Met to Val, Gln to Glu | |||||
| Xaa of Gly-Xaa-Yaa motif | 0 | 0 | 4 | 2 | |
| Glu to Gly (3), Gln to Lys | |||||
| Repeat Interruptions | 3 | 3 | 0 | 0 | |
| Frameshift | 3 | 3 | 1 | 1 | |
| 2 deletions, 1 duplication | 1 deletion | ||||
| Splice-site | 8 | 8 | 0 | 0 | |
| NC1 domain | Missense | 4 | 3 | 1 | 1 |
| Nonsense | 1 | 1 | 0 | 0 | |
| Duplication | 1 | 1 | 0 | 0 | |
| Insertion | 1 | 1 | 0 | 0 | |
| Totals | 93 | 74 | 12 | 10 |