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Results for the Protein: Q15582
2498193

BGH3_HUMAN RecName: Full=Transforming growth factor-beta-induced protein ig-h3; Short=Beta ig-h3; AltName: Full=Kerato-epithelin; AltName: Full=RGD-containing collagen-associated protein; Short=RGD-CAP; Flags: Precursor

Known Diseases associated with this Protein:
  CORNEAL DYSTROPHY, AVELLINO TYPE
  CORNEAL DYSTROPHY, AVELLINO TYPE (CDA)
  CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
  CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE (EBMD)
  CORNEAL DYSTROPHY, GROENOUW TYPE 1 (CDGG1)
  CORNEAL DYSTROPHY, GROENOUW TYPE I
  CORNEAL DYSTROPHY, LATTICE TYPE 1 (CDL1)
  CORNEAL DYSTROPHY, LATTICE TYPE 3A (CDL3A)
  CORNEAL DYSTROPHY, LATTICE TYPE I
  CORNEAL DYSTROPHY, LATTICE TYPE IIIA
  CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
  CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (CDRB)
  CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE
  CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE (CDTB)
35
10
11
0
34
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Default View:

EMI - pfam07546
Fasciclin - pfam02469
FAS1 - smart00554
COG2335 - COG2335


Swiss-Prot Protein: Q15582
Identical to: NP_000349
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Fasciclinpfam024696.5e-33114238
COG2335COG23352.7e-17166379
Fasciclinpfam024693.3e-42252373
Fasciclinpfam024692.6e-22387500
COG2335COG23354e-18464640
Fasciclinpfam024691.5e-42514634
EMIpfam075463.8e-084592
FAS1smart005541.9e-34139239
FAS1smart005541.2e-34276374
FAS1smart005542.1e-19411501
FAS1smart005546.5e-32538635

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_031539Diseasep.ALA546ASPCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_012448Diseasep.ALA546THRCorneal dystrophy, lattice type 3A (CDL3A)
Swiss-ProtVAR_005076Diseasep.ARG124CYSCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_005082Diseasep.ARG555GLNCorneal dystrophy, Thiel-Behnke type (CDTB)
Swiss-ProtVAR_031534Polymorphismp.ARG496GLYN/A
Swiss-ProtVAR_005077Diseasep.ARG124HISCorneal dystrophy, Avellino type (CDA)
Swiss-ProtVAR_005078Diseasep.ARG124LEUCorneal dystrophy, Reis-Bucklers type (CDRB)
Swiss-ProtVAR_012444Diseasep.ARG124SERCorneal dystrophy, Groenouw type 1 (CDGG1)
Swiss-ProtVAR_031546Diseasep.ARG666SERCorneal dystrophy, epithelial basement membrane (EBMD)
Swiss-ProtVAR_005083Diseasep.ARG555TRPCorneal dystrophy, Groenouw type 1 (CDGG1)
Swiss-ProtVAR_012449Polymorphismp.ASN622HISN/A
Swiss-ProtVAR_018486Diseasep.ASN622LYSCorneal dystrophy, lattice type 3A (CDL3A)
Swiss-ProtVAR_012447Polymorphismp.ASN544SERN/A
Swiss-ProtVAR_031532Polymorphismp.ASP123HISN/A
Swiss-ProtVAR_018487Diseasep.GLY623ASPCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_031544Polymorphismp.GLY594VALN/A
Swiss-ProtVAR_031543Diseasep.HIS572ARGCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_012450Diseasep.HIS626ARGCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_018488Diseasep.HIS626PROCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_014335Polymorphismp.ILE200PHEN/A
Swiss-ProtVAR_031536Diseasep.LEU509ARGCorneal dystrophy, epithelial basement membrane (EBMD)
Swiss-ProtVAR_018484Diseasep.LEU518ARGCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_005080Diseasep.LEU527ARGCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_031541Diseasep.LEU569ARGCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_031533Polymorphismp.LEU269PHEN/A
Swiss-ProtVAR_012446Diseasep.LEU518PROCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_031538Diseasep.PHE540SERCorneal dystrophy, lattice type 3A (CDL3A)
Swiss-ProtVAR_031540Diseasep.PRO551GLNCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_005079Diseasep.PRO501THRCorneal dystrophy, lattice type 3A (CDL3A)
Swiss-ProtVAR_018485Diseasep.THR538ARGCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_031535Diseasep.VAL505ASPCorneal dystrophy, lattice type 1 (CDL1)
Swiss-ProtVAR_031537Polymorphismp.VAL539ASPN/A
Swiss-ProtVAR_018489Polymorphismp.VAL631ASPN/A
Swiss-ProtVAR_031531Polymorphismp.VAL113ILEN/A
OMIM601692.0003 Diseasep.ARG124CYSCORNEAL DYSTROPHY, LATTICE TYPE I
OMIM601692.0002 Diseasep.ARG555GLNCORNEAL DYSTROPHY, THIEL-BEHNKE TYPE
OMIM601692.0004 Diseasep.ARG124HISCORNEAL DYSTROPHY, AVELLINO TYPE
OMIM601692.0007 Diseasep.ARG124LEUCORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
OMIM601692.0008 Diseasep.ARG124SERCORNEAL DYSTROPHY, GROENOUW TYPE I
OMIM601692.0013 Diseasep.ARG666SERCORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
OMIM601692.0001 Diseasep.ARG555TRPCORNEAL DYSTROPHY, GROENOUW TYPE I
OMIM601692.0011 Diseasep.GLY623ASPCORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
OMIM601692.0012 Diseasep.LEU509ARGCORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
OMIM601692.0010 Diseasep.PHE540SERCORNEAL DYSTROPHY, LATTICE TYPE IIIA
OMIM601692.0005 Diseasep.PRO501THRCORNEAL DYSTROPHY, LATTICE TYPE IIIA



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