1 protein found in SwissVar (10 variants)
with gene/protein name P49419
Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.
| Accession | Entry name | Disease | Variants | 3D mapping (variant position) |
|---|---|---|---|---|
| P49419 | AL7A1_HUMAN | p.Thr412Ala p.Lys439Gln |
| |
| P49419 | AL7A1_HUMAN | pyridoxine-dependent epilepsy | p.Ala199Val p.Gly202Val p.Gly291Glu p.Asn301Ile p.Arg335Gln p.Val395Gly p.Glu427Gln p.Ser458Asn |
|
