1 protein found in SwissVar (52 variants)
with gene/protein name Q5S007
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) |
|---|---|---|---|---|
| Q5S007 | LRRK2_HUMAN | p.Arg50His p.Leu119Pro p.Cys228Ser p.Ala419Val p.Asn551Lys p.Ala716Val p.Ile723Val p.Pro755Leu p.Lys871Glu p.Asp944Tyr p.Pro1262Ala p.Asp1375Glu p.Arg1398His p.Arg1441Cys p.Arg1628Pro p.Met1646Thr p.Ser1647Thr p.Arg1723Pro p.Leu1870Phe p.Asn2081Asp p.Pro2119Leu p.Asn2261Ile p.Gly2385Arg p.Glu2395Lys p.Met2397Thr |
2ZEJB (1375) 2ZEJA (1398) 2ZEJB (1441) | |
| Q5S007 | LRRK2_HUMAN | ovarian mucinous carcinoma | p.Arg1550Gln |
|
| Q5S007 | LRRK2_HUMAN | renal cell carcinoma | p.Lys1359Ile |
|
| Q5S007 | LRRK2_HUMAN | parkinson disease 8 | p.Met712Val p.Arg793Met p.Gln930Arg p.Arg1067Gln p.Ser1096Cys p.Ile1122Val p.Ser1228Thr p.Ile1371Val p.Arg1441His p.Arg1441Gly p.Arg1514Gln p.Pro1542Ser p.Val1598Glu p.Tyr1699Cys p.Arg1728His p.Arg1728Leu p.Met1869Thr p.Arg1941His p.Ile2012Thr p.Gly2019Ser p.Ile2020Thr p.Thr2141Met p.Arg2143His p.Thr2356Ile p.Leu2466His |
2ZEJA (1371) 2ZEJB (1441) 2ZEJB (1441) |