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Results for the Protein: O43602
215274172
DCX

DCX_HUMAN RecName: Full=Neuronal migration protein doublecortin; AltName: Full=Doublin; AltName: Full=Lissencephalin-X; Short=Lis-X

Known Diseases associated with this Protein:
  LISSENCEPHALY, X-LINKED 1 (LISX1)
  LISSENCEPHALY, X-LINKED, 1
  SUBCORTICAL BAND HETEROTOPIA X-LINKED (SBHX)
  SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED
  SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
51
2
10
0
43
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Default View:

DCX - smart00537
DCX - cd01617
DCX - pfam03607


Swiss-Prot Protein: O43602
Identical to: NP_000546
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DCXcd016172.6e-44134216
DCXcd016171.7e-29261340
DCXpfam036071.4e-33151215
DCXpfam036073.3e-24278339
DCXsmart005372.5e-49129220
DCXsmart005372.8e-40256344

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026026Diseasep.ALA152SERLissencephaly, X-linked 1 (LISX1)
Swiss-ProtVAR_026037Diseasep.ALA332SERSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_026038Diseasep.ALA332VALSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_026029Diseasep.ARG259CYSSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007831Diseasep.ARG267CYSSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_010536Diseasep.ARG170GLYSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007822Diseasep.ARG140HISSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_010202Polymorphismp.ARG159HISN/A
Swiss-ProtVAR_026031Diseasep.ARG277HISLissencephaly, X-linked 1 (LISX1)
Swiss-ProtVAR_007821Diseasep.ARG140LEUSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007824Diseasep.ARG159LEUSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007830Diseasep.ARG259LEUSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007827Diseasep.ARG183SERLissencephaly, X-linked 1 (LISX1)
Swiss-ProtVAR_026032Polymorphismp.ARG277SERN/A
Swiss-ProtVAR_007833Diseasep.ARG273TRPSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_026024Diseasep.ASN141ASPLissencephaly, X-linked 1 (LISX1)
Swiss-ProtVAR_026033Diseasep.ASN281ILESubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007834Diseasep.ASN281LYSSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007823Diseasep.ASP143ASNSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007825Diseasep.ASP167HISSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007826Diseasep.GLY181ALASubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007842Diseasep.GLY334ASPSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_026025Diseasep.GLY148GLUSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007838Diseasep.GLY304GLUSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_026035Diseasep.GLY304VALSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007840Diseasep.ILE331ASNSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_026028Diseasep.ILE185THRSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007836Diseasep.ILE295THRSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007841Diseasep.ILE331THRSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_026027Diseasep.LEU178ARGSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007819Diseasep.LEU124SERLissencephaly, X-linked 1 (LISX1)
Swiss-ProtVAR_026023Diseasep.LYS131ASNSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_026036Diseasep.PHE324LEULissencephaly, X-linked 1 (LISX1)
Swiss-ProtVAR_007832Diseasep.PRO272ARGSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_026030Diseasep.PRO272LEUSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007820Diseasep.SER128ARGSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_026034Diseasep.THR284ALASubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007835Diseasep.THR284ARGSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_026022Diseasep.THR123ILELissencephaly, X-linked 1 (LISX1)
Swiss-ProtVAR_007837Diseasep.THR303ILESubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007829Diseasep.TYR206ASPSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007828Diseasep.TYR206HISSubcortical band heterotopia X-linked (SBHX)
Swiss-ProtVAR_007839Diseasep.VAL317ILESubcortical band heterotopia X-linked (SBHX)
OMIM300121.0014 Diseasep.ALA71SERLISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM300121.0012 Diseasep.ARG89GLYSUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED
OMIM300121.0013 Diseasep.ARG196HISLISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM300121.0011 Diseasep.ARG78HISSUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED
OMIM300121.0005 Diseasep.ARG59LEULISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM300121.0002 Diseasep.ARG192TRPLISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM300121.0001 Diseasep.ASP62ASNLISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM300121.0007 Diseasep.SER47ARGLISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM300121.0006 Diseasep.THR203ARGLISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM300121.0003 Diseasep.TYR125HISLISSENCEPHALY, X-LINKED, 1||SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED



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