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Results for the Protein: P50443
254763328

S26A2_HUMAN RecName: Full=Sulfate transporter; AltName: Full=Diastrophic dysplasia protein; AltName: Full=Solute carrier family 26 member 2

Known Diseases associated with this Protein:
  ACHONDROGENESIS 1B (ACG1B)
  ACHONDROGENESIS, TYPE IB
  ATELOSTEOGENESIS 2 (AO2)
  ATELOSTEOGENESIS, TYPE II
  DE LA CHAPELLE DYSPLASIA
  DIASTROPHIC DYSPLASIA
  DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT
  DIASTROPHIC DYSPLASIA, INCLUDED
  DIASTROPHIC DYSPLASIA, INCLUDED;;
  EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
  EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, INCLUDED
  MULTIPLE EPIPHYSEAL DYSPLASIA 4 (EDM4)
17
3
10
2
8
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Default View:

SUL1 - COG0659
Sulfate_transp - pfam00916
STAS_SulP_like_sulfa - cd07042
STAS - pfam01740
STAS - cd06844


Swiss-Prot Protein: P50443
Identical to: NP_000103
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SUL1COG06591.3e-7787726
STAS_SulP_like_sulfacd070421.8e-30569712
STAScd068441.7e-94570707
Sulfate_transppfam009165.1e-121236514
STASpfam017402e-41569715

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007439Diseasep.ALA715VALMultiple epiphyseal dysplasia 4 (EDM4)
Swiss-ProtVAR_007435Diseasep.ARG279TRPMultiple epiphyseal dysplasia 4 (EDM4)
Swiss-ProtVAR_007437Diseasep.ASN425ASPAchondrogenesis 1B (ACG1B)
Swiss-ProtVAR_018655Diseasep.CYS653SERMultiple epiphyseal dysplasia 4 (EDM4)
Swiss-ProtVAR_018654Polymorphismp.GLN454PRON/A
Swiss-ProtVAR_007434Diseasep.GLY255GLUAtelosteogenesis 2 (AO2)
Swiss-ProtVAR_007438Diseasep.GLY678VALAchondrogenesis 1B (ACG1B)
dbSNPrs30832 Polymorphismp.ILE574THRN/A
Swiss-ProtVAR_066835Diseasep.PHE256SERMultiple epiphyseal dysplasia 4 (EDM4)
dbSNPrs3776070 Polymorphismp.THR689SERN/A
OMIM606718.0014 Diseasep.ALA133VALDIASTROPHIC DYSPLASIA
OMIM606718.0004 Diseasep.ALA715VALATELOSTEOGENESIS, TYPE II
OMIM606718.0005 Diseasep.ARG178TERACHONDROGENESIS, TYPE IB||DIASTROPHIC DYSPLASIA, INCLUDED
OMIM606718.0002 Diseasep.ARG279TRPATELOSTEOGENESIS, TYPE II||DIASTROPHIC DYSPLASIA, INCLUDED;;||EPIPHYSEAL DYSPLASIA, MULTIPLE, 4, INCLUDED
OMIM606718.0006 Diseasep.ASN425ASPACHONDROGENESIS, TYPE IB
OMIM606718.0011 Diseasep.CYS653SEREPIPHYSEAL DYSPLASIA, MULTIPLE, 4
OMIM606718.0009 Diseasep.GLN454PRODIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT
OMIM606718.0003 Diseasep.GLY255GLUATELOSTEOGENESIS, TYPE II
OMIM606718.0007 Diseasep.GLY678VALACHONDROGENESIS, TYPE IB
OMIM606718.0013 Diseasep.THR512LYSDE LA CHAPELLE DYSPLASIA||DIASTROPHIC DYSPLASIA, INCLUDED



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