Table 2.
Polymorphisms in Collagen VI Genes That Result in Amino Acid Changes
| Patient, Gene,and Exon | NucleotideChange | Amino AcidChange | Status |
| UC-1: | |||
| COL6A1: | |||
| 35 | 2669C→T | S889L | Heterozygous |
| COL6A2: | |||
| 26 | 2039A→G | H680R | Heterozygous |
| 28 | 2803G→A | G935R | Heterozygous |
| COL6A3: | |||
| 25 | 6653C→T | P2218L | Heterozygous |
| 28 | 6860C→G | P2287R | Homozygous |
| 41 | 9203C→T | T3068I | Homozygous |
| UC-4: | |||
| COL6A2: | |||
| 18 | 1466G→A | R489Q | Heterozygous |
| 26 | 2039A→G | H680R | Homozygous |
| COL6A3: | |||
| 4 | 872G→A | R291K | Heterozygous |
| 36 | 7292T→A | V2431D | Homozygous |
| 39 | 8491G→C | D2831T | Homozygous |
| 40 | 8780C→T | T2927M | Heterozygous |
| 40 | 8870-8871insTGC | 2957insA | Homozygous |
| 40 | 8959G→A | V2987M | Homozygous |
| 41 | 9203C→T | T3068I | Heterozygous |