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. 2018 Dec 27;104(1):179–185. doi: 10.1016/j.ajhg.2018.11.018

Figure 2.

Figure 2

3D Modeling of RNF13 Protein Structure

(A) RNF13 orthologous sequences from various mammalian species. The dileucine motif in position 311-312, altered in the affected individuals reported here, is highly conserved. FOXO1 sequences are reported for comparative purposes.

(B) The 3D model of RNF13. The PA_C_RZF-like domain located at the N-terminal of RNF13 (residues 55-171) is shown in yellow. The RING_H2_RNF167 domain (residues 233-283) is shown in blue. Residues 309-319, including the discussed 309-TPLLRPLASVS-319 sequence, are presented in red. The putative PEST motif and a serine-rich sequence (See alignment panel), located close to the 309-TPLLRPLASVS-319 sequence at the end of the C-terminal domain (residues 284-381), are shown in gray. Finally, the N-terminal domain (residues 1-54) and the domain including residues 172-232 are presented in pink.

(C) The 309-TPLLRPLASVS-319 loop and the resulting two variants, 309-TPSLRPLASVS-319 and 309-TPLPRPLASVS-319, are shown in a red cartoon representation. High-probability phosphorylated residues are indicated.