Figure 1.
Rare recessive LOF mutations in GIMAP5 identified in four kindreds.(A) Pedigrees depict four unrelated families. Affected and unaffected subjects are shown as black-filled and white-filled symbols, respectively. Mutations (p.I47T in kindred 1, p.L223P in kindred 2, p.P109L in kindred 3, and p.L204P in kindred 4) are homozygous in the available affected subjects and heterozygous in the parents. Consanguineous unions are denoted by a double line. (B) Schematic representation of human GIMAP5 protein with AIG1 domain depicted in dark gray, where all four missense mutations are located. Conservation of Ile47, Pro109, Leu204, and Leu223 positions across orthologues and GIMAP family members are shown. Amino acid positions identical to the human reference are highlighted in yellow. AIG1, GTP-binding AIG1 homology domain; TD, transmembrane domain; mut, mutant; wt, wild-type.

Rare recessive LOF mutations in GIMAP5 identified in four kindreds. (A) Pedigrees depict four unrelated families. Affected and unaffected subjects are shown as black-filled and white-filled symbols, respectively. Mutations (p.I47T in kindred 1, p.L223P in kindred 2, p.P109L in kindred 3, and p.L204P in kindred 4) are homozygous in the available affected subjects and heterozygous in the parents. Consanguineous unions are denoted by a double line. (B) Schematic representation of human GIMAP5 protein with AIG1 domain depicted in dark gray, where all four missense mutations are located. Conservation of Ile47, Pro109, Leu204, and Leu223 positions across orthologues and GIMAP family members are shown. Amino acid positions identical to the human reference are highlighted in yellow. AIG1, GTP-binding AIG1 homology domain; TD, transmembrane domain; mut, mutant; wt, wild-type.

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