1 protein found in SwissVar (18 variants)
with gene/protein name P28329
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) |
|---|---|---|---|---|
| P28329 | CLAT_HUMAN | p.Asp47Glu p.Ala120Thr p.Arg222Pro p.Leu243Phe p.Pro299Leu p.Ala392Gly p.Asp400Asn p.Val461Met |
2FY2A (104) 2FY3A (125) 2FY4A (181) 2FY2A (274) 2FY2A (282) 2FY5A (343) | |
| P28329 | CLAT_HUMAN | myasthenic syndrome, congenital, associated with episodic apnea | p.Leu210Pro p.Pro211Ala p.Ile305Thr p.Ile336Thr p.Arg420Cys p.Glu441Lys p.Arg482Gly p.Ser498Leu p.Val506Leu p.Arg560His | 2FY2A
(92) 2FY3A (93) 2FY2A (187) 2FY2A (218) 2FY4A (302) 2FY2A (323) 2FY2A (364) 2FY3A (380) 2FY5A (386) 2FY2A (442) |