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Results for the Protein: Q2I0M5
97189858

RSPO4_HUMAN RecName: Full=R-spondin-4; AltName: Full=Roof plate-specific spondin-4; Short=hRspo4; Flags: Precursor

Known Diseases associated with this Protein:
  NAIL DISORDER, NON-SYNDROMIC CONGENITAL, 4 (NDNC4)
  NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
11
2
7
2
4
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Default View:

FU - smart00261
FU - cd00064
TSP1 - smart00209


Swiss-Prot Protein: Q2I0M5
Identical to: NP_001025042
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FUcd000641.5e-0790136
FUsmart002619.5e-0985128
TSP1smart002091.5e-05141197

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6140807 Polymorphismp.ARG106GLNN/A
Swiss-ProtVAR_030401Diseasep.CYS107ARGNail disorder, non-syndromic congenital, 4 (NDNC4)
Swiss-ProtVAR_030400Diseasep.CYS95PHENail disorder, non-syndromic congenital, 4 (NDNC4)
Swiss-ProtVAR_030402Diseasep.CYS118TYRNail disorder, non-syndromic congenital, 4 (NDNC4)
Swiss-ProtVAR_030399Diseasep.GLN65ARGNail disorder, non-syndromic congenital, 4 (NDNC4)
dbSNPrs61740632 Polymorphismp.HIS175PRON/A
OMIM610573.0007 Diseasep.ARG64CYSNAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
OMIM610573.0002 Diseasep.CYS107ARGNAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
OMIM610573.0003 Diseasep.CYS118TYRNAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
OMIM610573.0004 Diseasep.CYS73TYRNAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
OMIM610573.0001 Diseasep.GLN65ARGNAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
OMIM610573.0006 Diseasep.GLN101TERNAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
OMIM610573.0008 Diseasep.GLY67ARGNAIL DISORDER, NONSYNDROMIC CONGENITAL, 4



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