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Results for the Protein: P56693
6175075

SOX10_HUMAN RecName: Full=Transcription factor SOX-10

Known Diseases associated with this Protein:
  PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME AND HIRSCHSPRUNG DISEAS
  PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG
  SYNDROME, AND HIRSCHSPRUNG DISEASE
  WAARDENBURG SYNDROME 2E (WS2E)
  WAARDENBURG SYNDROME 4C (WS4C)
  WAARDENBURG SYNDROME, TYPE 2E, WITH NEUROLOGIC INVOLVEMENT
  WAARDENBURG SYNDROME, TYPE 2E, WITH NEUROLOGIC INVOLVEMENT, INCLUDED
  WAARDENBURG SYNDROME, TYPE 2E, WITHOUT NEUROLOGIC INVOLVEMENT
  WAARDENBURG SYNDROME, TYPE 4C
23
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10
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13
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Default View:

Sox_N - pfam12444
HMG - smart00398


Swiss-Prot Protein: P56693
Identical to: NP_008872
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Sox_Npfam124445.7e-371194
HMGsmart003981.9e-27103172

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066752Diseasep.ALA157VALWaardenburg syndrome 4C (WS4C)
Swiss-ProtVAR_066753Diseasep.ARG161HISWaardenburg syndrome 2E (WS2E)
Swiss-ProtVAR_066747Diseasep.ARG106TRPWaardenburg syndrome 4C (WS4C)
Swiss-ProtVAR_066749Diseasep.ASN131HISPeripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas
Swiss-ProtVAR_066754Diseasep.GLN174PROPeripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas
Swiss-ProtVAR_066758Diseasep.GLY321ARGPeripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas
Swiss-ProtVAR_066750Diseasep.LEU145PROWaardenburg syndrome 4C (WS4C)
Swiss-ProtVAR_066751Diseasep.LYS150ASNPeripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas
Swiss-ProtVAR_066748Diseasep.MET112ILEWaardenburg syndrome 2E (WS2E)
Swiss-ProtVAR_066755Diseasep.PRO175ALAPeripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas
Swiss-ProtVAR_066757Diseasep.PRO175ARGPeripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas
Swiss-ProtVAR_066756Diseasep.PRO175LEUPeripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas
Swiss-ProtVAR_021386Diseasep.SER135THRWaardenburg syndrome 2E (WS2E)
OMIM602229.0016 Diseasep.ALA157VALWAARDENBURG SYNDROME, TYPE 4C
OMIM602229.0018 Diseasep.GLN174PROWAARDENBURG SYNDROME, TYPE 2E, WITH NEUROLOGIC INVOLVEMENT
OMIM602229.0011 Diseasep.GLN250TERPERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG||SYNDROME, AND HIRSCHSPRUNG DISEASE
OMIM602229.0010 Diseasep.GLN377TERWAARDENBURG SYNDROME, TYPE 4C||WAARDENBURG SYNDROME, TYPE 2E, WITH NEUROLOGIC INVOLVEMENT, INCLUDED
OMIM602229.0001 Diseasep.GLU189TERWAARDENBURG SYNDROME, TYPE 4C
OMIM602229.0007 Diseasep.SER251TERPERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG||SYNDROME, AND HIRSCHSPRUNG DISEASE
OMIM602229.0005 Diseasep.SER135THRWAARDENBURG SYNDROME, TYPE 2E, WITHOUT NEUROLOGIC INVOLVEMENT
OMIM602229.0009 Diseasep.TYR207TERWAARDENBURG SYNDROME, TYPE 4C
OMIM602229.0006 Diseasep.TYR313TERPERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG||SYNDROME, AND HIRSCHSPRUNG DISEASE
OMIM602229.0002 Diseasep.TYR83TERWAARDENBURG SYNDROME, TYPE 4C



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