1 protein found in SwissVar (16 variants)
with gene/protein name P55072
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) |
|---|---|---|---|---|
| P55072 | TERA_HUMAN | inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | p.Arg95Gly p.Ile126Phe p.Arg155Pro p.Arg155His p.Arg155Cys p.Arg155Leu p.Arg155Ser p.Arg159His p.Arg191Gln p.Leu198Trp p.Ala232Glu p.Asn387His |
|
| P55072 | TERA_HUMAN | amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | p.Arg155His p.Arg159Gly p.Arg191Gln p.Asp592Asn |
|
| P55072 | TERA_HUMAN | charcot-marie-tooth disease 2y | p.Gly97Glu p.Glu185Lys |
|