Published Mutations of the ALAS2 Gene in Patients With XLSA
| Exon . | Base . | Sequence Context . | Amino Acid . | Mutation Type . | PLP5-150 . | Age of Onset (yr) . | Sex . | Reference . |
|---|---|---|---|---|---|---|---|---|
| 5 | C547A | TTC → TTA | F165L | Transversion | + | 0 | M | 4 |
| 5 | G561T | CGC → CTC | R170L | Transversion | ++ | 30 | M | 49 |
| 5 | G566A | GCT → ACT | A172T | Transition | ++++ | 81 | F | 6 |
| 5 | A621T | GAT → GTT | D190V | Transversion | − | 18 | M | 8 |
| 5 | T647C | TAC → CAC | Y199H | Transition | ++ | 16 | M | This report |
| 7 | G923A | GGT → GAT | G291S | Transition | +++ | 35 | M | 7 |
| 7 | A947C | AAG → GAG | K299Q | Transition | ++++ | 77 | M | 6 |
| 8 | C1215G | ACT → AGT | T388S | Transversion | ++ | 55 | M | 5 |
| 9 | C1283T | CGC → TGC | R411C | CpG transition | +++ | 8 | M | This report |
| 9 | A1328G | ATG → GTG | M426V | Transition | +++ | 2 | M | 8 |
| 9 | G1395A | CGA → CAA | R448Q | CpG transition | ++ | 11 | M | This report |
| 9 | C1406T | CGC → TGC | R452C | CpG transition | δ | ? | M | This report |
| 9 | G1407A | CGC → CAC | R452H | CpG transition | + | 24 | M | 9 |
| 9 | T1479A | ATC → AAC | I476N | Transversion | +++ | 16 | M | 3 |
| 10 | C1622G | CAC → GAC | H524D | Transversion | ++ | 0 | M | 10 |
| Exon . | Base . | Sequence Context . | Amino Acid . | Mutation Type . | PLP5-150 . | Age of Onset (yr) . | Sex . | Reference . |
|---|---|---|---|---|---|---|---|---|
| 5 | C547A | TTC → TTA | F165L | Transversion | + | 0 | M | 4 |
| 5 | G561T | CGC → CTC | R170L | Transversion | ++ | 30 | M | 49 |
| 5 | G566A | GCT → ACT | A172T | Transition | ++++ | 81 | F | 6 |
| 5 | A621T | GAT → GTT | D190V | Transversion | − | 18 | M | 8 |
| 5 | T647C | TAC → CAC | Y199H | Transition | ++ | 16 | M | This report |
| 7 | G923A | GGT → GAT | G291S | Transition | +++ | 35 | M | 7 |
| 7 | A947C | AAG → GAG | K299Q | Transition | ++++ | 77 | M | 6 |
| 8 | C1215G | ACT → AGT | T388S | Transversion | ++ | 55 | M | 5 |
| 9 | C1283T | CGC → TGC | R411C | CpG transition | +++ | 8 | M | This report |
| 9 | A1328G | ATG → GTG | M426V | Transition | +++ | 2 | M | 8 |
| 9 | G1395A | CGA → CAA | R448Q | CpG transition | ++ | 11 | M | This report |
| 9 | C1406T | CGC → TGC | R452C | CpG transition | δ | ? | M | This report |
| 9 | G1407A | CGC → CAC | R452H | CpG transition | + | 24 | M | 9 |
| 9 | T1479A | ATC → AAC | I476N | Transversion | +++ | 16 | M | 3 |
| 10 | C1622G | CAC → GAC | H524D | Transversion | ++ | 0 | M | 10 |
Abbreviations: M, male; F, female.
Response to pyridoxine supplementation: ++++, complete normalization of Hb and MCV; +++, >4 g/dL increase in Hb; ++, 2-4 g/dL; +, 1-2 g/dL; δ, partial response; −, no response.