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Table 1 UMOD mutations reported in the literature.

From: A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

Mutation exon reference
c.156T→G; p.C52W 4 [15]
c.176A→C; p.D59A 4 [11]
c.230G→A; p.C77Y 4 [16]
c.278_289del/insCCGGCTCCT; p.V93_G97del/insAASC 4 [12]
c.307G→T; p.G103C 4 [10]
c.334T→C; p.C112R 4 [11]
c.376T→C; p.C126R 4 [16]
c.383A→G; p.N128S 4 [16]
c.403T→A; p.C135S 4 [15]
c.443G→A; p.C148Y 4 [10]
c.444T→G; p.C148W 4 [14]
c.449G→C; p.C150S 4 [14]
c.509G→A; p.C170Y 4 [11]
c.529_555del; p.H177_R185del 4 [10]
c.553C→G; p.R185G 4 [18]
c.553C→A; p.R185S 4 [11]
c.563_661del; p.E188_L221del 4 [11]
c.584G→T; p.C195F 4 [15]
c.605G→C; p.W202S 4 [15]
c.610C→G; p.R204G 4 [11]
c.649T→C; p.C217R 4 [10]
c.649T→G; p.C217G 4 [11]
c.665G→C; p.R222P 4 [11]
c.668G→A; p.C223Y 4 [17]
c.674C→T; p.T225M 4 [11]
c.674C→A; p.T225K 4 [12]
c.707C→T; p.P236L 4 [15]
c.744C→G; p.C248W 4 [12]
c.764G→A; p.C255Y 4 [16]
c.844T→C; p.C282R 4 [11]
c.898T→G; p.C300G 5 [16]
c.920A→C; p.K307T 5 present report
c.943T→C; p.C315R 5 [14]
c.950G→A; p.C317Y 5 [14]