Mutations in cytochrome b5reductase
| Type I mutations . | |
|---|---|
| Amino acid substitution . | Reference . |
| R49Q | This article |
| R57Q | 33,35 |
| P64L | This article |
| L72P | 37 |
| P95H | 43 |
| V105M | 33 |
| P144L | This article |
| L148P | 34, 35 |
| A178V | 38 |
| A178T | This article |
| C203Y | 39 |
| E212K | 36 |
| L238R | This article |
| V252M | This article |
| Type I mutations . | |
|---|---|
| Amino acid substitution . | Reference . |
| R49Q | This article |
| R57Q | 33,35 |
| P64L | This article |
| L72P | 37 |
| P95H | 43 |
| V105M | 33 |
| P144L | This article |
| L148P | 34, 35 |
| A178V | 38 |
| A178T | This article |
| C203Y | 39 |
| E212K | 36 |
| L238R | This article |
| V252M | This article |
| Type II mutations . | |
|---|---|
| Y42stop | 43 |
| R83stop | 38 |
| Intron 4 g − 1 → a (skip exon 5) | This article |
| S127P | 31-33 |
| Intron 5 g + 8 → c (skip exon 5) | 42 |
| Intron 5 a − 2 → c (skip exon 6) | 44 |
| C203R | 42 |
| R218stop | 42 |
| Intron 8 g − 1 → t (skip exon 9) | 41 |
| Deletion M272 | 42 |
| Deletion F298 | 40 |
| Type II mutations . | |
|---|---|
| Y42stop | 43 |
| R83stop | 38 |
| Intron 4 g − 1 → a (skip exon 5) | This article |
| S127P | 31-33 |
| Intron 5 g + 8 → c (skip exon 5) | 42 |
| Intron 5 a − 2 → c (skip exon 6) | 44 |
| C203R | 42 |
| R218stop | 42 |
| Intron 8 g − 1 → t (skip exon 9) | 41 |
| Deletion M272 | 42 |
| Deletion F298 | 40 |
Single-letter amino acid codes used.