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Results for the Protein: Q9UBX5
12643876

FBLN5_HUMAN RecName: Full=Fibulin-5; Short=FIBL-5; AltName: Full=Developmental arteries and neural crest EGF-like protein; Short=Dance; AltName: Full=Urine p50 protein; Short=UP50; Flags: Precursor

Known Diseases associated with this Protein:
  CUTIS LAXA, AUTOSOMAL RECESSIVE, 1A (ARCL1A)
  CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
  MACULAR DEGENERATION, AGE-RELATED, 3
  MACULAR DEGENERATION, AGE-RELATED, 3 (ARMD3)
18
1
10
0
9
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Default View:

EGF_CA - smart00179
EGF_CA - cd00054
EGF_CA - pfam07645
EGF - smart00181
EGF - cd00053


Swiss-Prot Protein: Q9UBX5
Identical to: NP_006320
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGFcd000531.3e-08130167
EGF_CAcd000541.3e-11168206
EGFcd000532.4e-09171206
EGF_CAcd000549.8e-15207246
EGFcd000532.7e-11210246
EGF_CAcd000544.3e-11247287
EGFcd000533.3e-09250287
EGF_CAcd000541.7e-05288333
EGF_CApfam076453.7e-13127166
EGF_CAsmart001792.7e-11127167
EGFsmart001814.6e-07130167
EGF_CApfam076453.1e-06168205
EGF_CAsmart001791.7e-13168206
EGFsmart001816.8e-10171206
EGF_CApfam076452.4e-10207245
EGF_CAsmart001792.8e-16207246
EGFsmart001812.7e-11210246
EGF_CApfam076450.00017247286
EGF_CAsmart001792.2e-12247287
EGFsmart001812.7e-10250287
EGF_CApfam076452.7e-07288332
EGF_CAsmart001798e-06288333

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019819Diseasep.ALA363THRMacular degeneration, age-related, 3 (ARMD3)
Swiss-ProtVAR_019815Diseasep.ARG71GLNMacular degeneration, age-related, 3 (ARMD3)
Swiss-ProtVAR_019818Diseasep.ARG351TRPMacular degeneration, age-related, 3 (ARMD3)
Swiss-ProtVAR_026986Polymorphismp.ASP364TYRN/A
Swiss-ProtVAR_019820Diseasep.GLY412GLUMacular degeneration, age-related, 3 (ARMD3)
Swiss-ProtVAR_019817Diseasep.ILE169THRMacular degeneration, age-related, 3 (ARMD3)
Swiss-ProtVAR_019816Diseasep.PRO87SERMacular degeneration, age-related, 3 (ARMD3)
Swiss-ProtVAR_017153Diseasep.SER227PROCutis laxa, autosomal recessive, 1A (ARCL1A)
Swiss-ProtVAR_019814Diseasep.VAL60LEUMacular degeneration, age-related, 3 (ARMD3)
OMIM604580.0008 Diseasep.ALA363THRMACULAR DEGENERATION, AGE-RELATED, 3
OMIM604580.0004 Diseasep.ARG71GLNMACULAR DEGENERATION, AGE-RELATED, 3
OMIM604580.0007 Diseasep.ARG351TRPMACULAR DEGENERATION, AGE-RELATED, 3
OMIM604580.0010 Diseasep.CYS217ARGCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
OMIM604580.0011 Diseasep.GLU391TERCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
OMIM604580.0009 Diseasep.GLY412GLUMACULAR DEGENERATION, AGE-RELATED, 3
OMIM604580.0006 Diseasep.ILE169THRMACULAR DEGENERATION, AGE-RELATED, 3
OMIM604580.0005 Diseasep.PRO87SERMACULAR DEGENERATION, AGE-RELATED, 3
OMIM604580.0001 Diseasep.SER227PROCUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
OMIM604580.0003 Diseasep.VAL60LEUMACULAR DEGENERATION, AGE-RELATED, 3



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