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Table 1 Summary of patient phenotypes and characteristics with HSPA1L mutation of interest

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

Sample ID HSPA1L mutation Age at diagnosis (years) Sex Disease Phenotype description Ethnicity Surgery Family history
12 sa p.Ser277Leu (c.830C > T) 16 Female UC Initially left-sided colitis and proctitis, subsequently, pancolitis Northern, Eastern European, and Middle-Eastern mixed ancestry - -
PR0034b p.Glu558Asp (c.1674A > T) 13 Male CD Nonstricturing ileocolonic White British + -
PR0142b p.Gly77Ser (c.229G > A) 13 Male UC Extensive mild to moderate pancolitis; maternal grandmother has UC Polish - +
PR0151b p.Ala268Thr (c.802G > A) 13 Female CD Panenteric colitis White British - -
PR0156b p.Thr267Ile (c.800C > T) 15 Male CD Terminal ileitis White British - -
PR0161b p.Ala268Thr (c.802G > A) 10 Female UC Extensive mild to moderate pancolitis and autoimmune sclerosing cholangitis; sister has UC (Dx age 13 years) White British - +
PR0244b p.Leu172del (c.515_517del) 13 Female IBDU Mild chronic inactive gastritis White British - -
  1. UC ulcerative colitis, CD Crohn's disease, IBDU inflammatory bowel disease unclassified
  2. aFrom Family A
  3. bFrom IBD cohort