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Results for the Protein: O75072
28381358

FKTN_HUMAN RecName: Full=Fukutin; AltName: Full=Fukuyama-type congenital muscular dystrophy protein

Known Diseases associated with this Protein:
  ANOMALIES), TYPE A, 4
  CARDIOMYOPATHY, DILATED 1X (CMD1X)
  CARDIOMYOPATHY, DILATED, 1X
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOU
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITH BRAIN AND EYE ANOMALIES A4 (MDDGA4)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY CONGENITAL WITHOUT MENTAL RETARDATION B4 (MDDGB4)
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY LIMB-GIRDLE C4 (MDDGC4)
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
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LicD - pfam04991


Swiss-Prot Protein: O75072
Identical to: NP_006722, NP_001073270
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065051Diseasep.ALA170GLUMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4)
Swiss-ProtVAR_065050Diseasep.ALA114THRMuscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4)
Swiss-ProtVAR_061296Polymorphismp.ARG56CYSN/A
dbSNPrs34787999 Polymorphismp.ARG203GLNN/A
Swiss-ProtVAR_039288Diseasep.ARG307GLNMuscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4)
Swiss-ProtVAR_065053Diseasep.ARG246GLYMuscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4)
Swiss-ProtVAR_039287Diseasep.ARG179THRCardiomyopathy, dilated 1X (CMD1X)
Swiss-ProtVAR_018279Polymorphismp.ASN446ASPN/A
Swiss-ProtVAR_036335Polymorphismp.ASP225ASNN/A
Swiss-ProtVAR_036334Polymorphismp.ASP225GLUN/A
Swiss-ProtVAR_018278Diseasep.CYS250GLYMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4)
Swiss-ProtVAR_039289Diseasep.GLN358PROCardiomyopathy, dilated 1X (CMD1X)
dbSNPrs34006675 Polymorphismp.GLY125SERN/A
Swiss-ProtVAR_065052Diseasep.PHE176SERMuscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4)
Swiss-ProtVAR_065054Diseasep.TYR371CYSMuscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4)
OMIM607440.0016 Diseasep.ALA170GLUMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4
OMIM607440.0014 Diseasep.ALA114THRMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4
OMIM607440.0009 Diseasep.ARG307GLNMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOU
OMIM607440.0018 Diseasep.ARG307TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4
OMIM607440.0002 Diseasep.ARG47TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4
OMIM607440.0011 Diseasep.ARG179THRCARDIOMYOPATHY, DILATED, 1X
OMIM607440.0010 Diseasep.GLN358PROCARDIOMYOPATHY, DILATED, 1X
OMIM607440.0007 Diseasep.GLN116TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4
OMIM607440.0012 Diseasep.GLY125SERRECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM607440.0015 Diseasep.PHE176SERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4
OMIM607440.0017 Diseasep.TYR371CYSMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4



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