FIGURE
Fig. 2
- ID
- ZDB-FIG-220204-17
- Publication
- Wong et al., 2021 - Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy
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Fig. 2
(A) Exon-intron genomic organization of C2orf69 with positions of the six germline loss-of-function mutations identified. (B) Protein organization of C2orf69 with positions of identified mutations. (C) Amino acid sequence conservation of C2orf69 orthologs across all major eukaryotic phyla. With the exception of fungi, C2orf69 is recorded in all metazoans, plants, and phytoplankton. (D) 3D structure prediction of human C2ORF69 with annotated residues L104_Y105 in green and predicted catalytic residue Ser264 in yellow. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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Full text @ Am. J. Hum. Genet.