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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review

Fig. 5

Prediction analysis of SALL1 protein structure A: The SALL1 (p.Leu293Glnfs*18 protein structure ; B: The SALL1 (p.E414X) protein structure Protein consequences of SALL1 mutation. Prediction analysis of the SALL1 (p.Leu293Glnfs*18 and p.E414X) protein structure was achieved using Alphafold and visualized using PyMOL. Prediction analysis of the SALL1 (p.Leu293Glnfs*18 and p.E414X) protein structure shown the amino acid sequence structure changed significantly and some domains were lost. The green part represents the common amino acid sequence of normal. The blue part represents the amino acid sequence changes and protein truncation

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172