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Table 2 UMOD mutation table

From: Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

Study Number

Mutation (reference sequence NM_003361.3)

Protein Alteration

Family history of renal disease

Diagnosis of FJHN/ ADTKD-UMOD prior to study

Age at RRT

Hyperuricaemia

Gout

FN68 301a

c.202G > A

p.(Glu68Lys)

Yes

Yes

41

No

No

FN9 304a

c.263G > T

p.(Gly88Val)

Yes

Yes

44

Yes

No

FN2 301

c.272-274del

p.(Ser91del)

Yes

Yes

39

Yes

Yes

FN2 302

c.272-274del

p.(Ser91del)

Yes

Yes

45

Yes

No

FN2 303a

c.272-274del

p.(Ser91del)

Yes

Yes

58

Yes

No

FN3 301a

c.272-274del

p.(Ser91del)

Yes

No

 

Yes

No

FN3 305a

c.272-274del

p.(Ser91del)

Yes

No

64

 

No

FN3 409a

c.272-274del

p.(Ser91del)

Yes

No

38

No

No

FN26 301a

c.272-274del

p.(Ser91del)

Yes

No

56

Yes

No

FN45 304a

c.272-274del

p.(Ser91del)

Yes

Yes

45

Yes

No

FN45 404a

c.272-274del

p.(Ser91del)

Yes

Yes

51

No

Yes

FN45 405a

c.272-274del

p.(Ser91del)

Yes

Yes

37

 

No

FN65 201

c.272-274del

p.(Ser91del)

Yes

Yes

66

 

No

FN65 202

c.272-274del

p.(Ser91del)

Yes

Yes

59

 

No

FN65 203a

c.272-274del

p.(Ser91del)

Yes

Yes

59

Yes

No

FN65 301

c.272-274del

p.(Ser91del)

Yes

Yes

 

Yes

Yes

FN65 401

c.272-274del

p.(Ser91del)

Yes

Yes

47

Yes

Yes

FN65 402

c.272-274del

p.(Ser91del)

Yes

Yes

 

Yes

Yes

FN65 412a

c.272-274del

p.(Ser91del)

Yes

Yes

54

No

Yes

FN1 303a

c.278_289delinsCCGCCTCCT

p.(Val93_Gly97delinsAlaAlaSerCys)

Yes

No

62

Yes

No

FN24 305a

c.278_289delinsCCGCCTCCT

p.(Val93_Gly97delinsAlaAlaSerCys)

Yes

No

42

Yes

No

FN47 404a

c.278_289delinsCCGCCTCCT

p.(Val93_Gly97delinsAlaAlaSerCys)

Yes

Yes

49

Yes

No

FN77 301a

c.278_289delinsCCGCCTCCT

p.(Val93_Gly97delinsAlaAlaSerCys)

Yes

Yes

49

Yes

No

FN20 302

c.443G > A

p.(Cys148Tyr)

Yes

Yes

50

Yes

Yes

FN20 403

c.443G > A

p.(Cys148Tyr)

Yes

Yes

 

Yes

No

FN64 303a

c.614 T > C

p.(Phe205Ser)

Yes

No

42

Yes

Yes

FN23 302

c.629G > A

p.(Gly210Asp)

Yes

No

36

Yes

Yes

FN23 303

c.629G > A

p.(Gly210Asp)

Yes

No

46

 

No

FN27 304a

c.688 T > C

p.(Trp230Arg)

Yes

No

63

Yes

Yes

FN27 306a

c.688 T > C

p.(Trp230Arg)

Yes

No

 

Yes

Yes

FN28 302

c.688 T > C

p.(Trp230Arg)

Yes

Yes

57

Yes

Yes

FN28 401a

c.688 T > C

p.(Trp230Arg)

Yes

Yes

 

Yes

Yes

FN7 305

c.860G > A

p.(Cys287Tyr)

Yes

Yes

27

Yes

Yes

FN35 403a

c.917G > A

p.(Cys287Tyr)

Yes

Yes

57

Yes

No

FN35 501a

c.917G > A

p.(Cys287Tyr)

Yes

Yes

42

Yes

Yes

  1. RRT renal replacement therapy, FJHN familial juvenile hyperuricaemic nephropathy
  2. aclinically confirmed