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Fig. 1 | Genome Medicine

Fig. 1

From: De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease

Fig. 1

De novo and rare variants in HSPA1L. a The pedigree and Sanger traces of Family A. The patient with ulcerative colitis (filled symbol) has a de novo heterozygous mutation of c.830C > T (encoding p.Ser277Leu). b Schematic representation of the HSPA1L gene and de novo or rare variants with the number of patients identified in Family A and 136 IBD cohort. Black, white, and gray circles represent ulcerative colitis, Crohn's disease, and IBD unclassified, respectively. c The identified rare variants (left) on the structure of nucleotide binding domain (NBD) of HSPA1L (PDB entry codes: 3GDQ [45]) and (right) on homology-based model of substrate binding domain (SBD) of HSPA1L created by using Phyre2 [46]. The variant sites are shown in red, and ADP and PO4 are depicted as a space-filling representation in green. d Amino acid conservation of HSPA1L among species. e Amino acid conservation among paralogs of HSPA1L in human. Amino acid sequences were aligned using Clustal Omega and annotated using BOXSHADE (d, e)

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