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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]