PMID-sentid Pub_year Sent_text compound_name comp_offset prot_official_name organism prot_offset 23988501-8 2013 Another previously reported UMOD mutation Cys248Trp (c.744C/G; p.Cys248Trp) was detected in family F2. cys248trp 42-51 uromodulin Homo sapiens 28-32 23988501-8 2013 Another previously reported UMOD mutation Cys248Trp (c.744C/G; p.Cys248Trp) was detected in family F2. cys248trp 65-74 uromodulin Homo sapiens 28-32 33616882-11 2021 Interestingly, cases of FJHN with c744C > G (p.Cys248Trp) mutations also exhibit a high incidence of juvenile onset, and identical disulfide bridges are considered responsible for the accumulation of mutant UMOD in the endoplasmic reticulum. cys248trp 47-56 uromodulin Homo sapiens 207-211