FIGURE

Fig. 1.

ID

ZDB-FIG-211014-1

Publication

Ng et al., 2021 - Genetically altered animal models for ATP1A3-related disorders

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Fig. 1.

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Fig. 1.

Location of ATP1A3-related disorder mutations. Schematic of the NKA α3 protein with the cytoplasmic domains (A, N and P), ten transmembrane helices (M1-M10) and extracellular loops. Each circle represents the location of an amino acid residue mutated in ATP1A3-related disorders. Different colours represent different disorders. The white circle in M5 indicates R756, mutated in multiple disorders. The encircled ‘P’ indicates the transient phosphorylation of the P-domain aspartate D369. AHC, alternating hemiplegia of childhood; ASD, autism spectrum disorder; CAPOS, cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss; COS, childhood-onset schizophrenia; CRA, childhood rapid-onset ataxia; D-DEMØ, dystonia, dysmorphism of the face, encephalopathy with developmental delay, brain MRI abnormalities always including cerebellar hypoplasia, no hemiplegia (Ø); NKA, Na⁺,K⁺-ATPase; PMG, polymicrogyria; RDP, rapid-onset dystonia-parkinsonism; RECA, relapsing encephalopathy with cerebellar ataxia.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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