T226M (p.Thr226Met) variant of KCNA1 (Q09470)
T226M (p.Thr226Met) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Episodic ataxia type 1; not provided. The record also includes published literature and structural context.
T226M (p.Thr226Met) variant details
- p.Thr226Met
- rs28933383
- ClinGen CA341655
- NCI-TCGA Cosmic COSV6683
- ClinVar RCV000020219
- Pathogenic
- Episodic ataxia type 1; not provided
- Missense
- ClinVar: Pathogenic (Episodic ataxia type 1; not provided)
- EBI: Pathogenic (in EA1)
- UniProt: Pathogenic (in EA1)
- Structural context available
- Cited in: Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1. (PMID 8871592)
- Cited in: A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and… (PMID 10355668)