FIGURE

Figure 1

ID

ZDB-FIG-210818-38

Publication

Seese et al., 2021 - Identification of missense MAB21L1 variants in microphthalmia and aniridia

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Figure 1

MAB21L1variant details. (a) Schematic of MAB21L1 (top) and MAB21L2 (bottom) proteins. Newly identified heterozygous MAB21L1 coding variants are indicated by a red arrow; previously reported MAB21L1 and MAB21L2 recessive variants are indicated with a black arrow; previously reported MAB21L2 dominant variants are indicated with a gray arrow. Missense variants are bolded. (b) Pedigrees for Families 1–3 indicating MAB21L1 genotype and Sanger sequencing traces for the identified coding variants. (c) Alignment of MAB21L1 and related proteins showing conservation at and around the Arg51Leu, Arg62Cys, and Gly220Arg variants. Identical amino acids are shaded in gray; positions of variant amino acids are indicated with dark gray. Human MAB21L1 (NP_005575.1), human MAB21L2 (NP_006430.1), mouse Mab21l1 (NP_034880.1), chicken Mab21l1 (NP_989864.1), zebrafish mab21l1 (NP_694506.2), and Caenorhabditis elegans mab‐21 (NP_497940.2) are shown

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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