Results for the protein: O43602

Results for the Protein: O43602

215274172

1641

DCX

NCBI, UniProt

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

Tips:

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Default View: DCX - smart00537 DCX - cd01617 DCX - pfam03607	Swiss-Prot Protein: O43602 Identical to: NP_000546 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DCX	cd01617	1.7e-29	261	340
DCX	pfam03607	1.4e-33	151	215
DCX	pfam03607	3.3e-24	278	339
DCX	smart00537	2.5e-49	129	220
DCX	smart00537	2.8e-40	256	344

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_026026	Disease	p.ALA152SER	Lissencephaly, X-linked 1 (LISX1)
Swiss-Prot	VAR_026037	Disease	p.ALA332SER	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_026038	Disease	p.ALA332VAL	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_026029	Disease	p.ARG259CYS	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007831	Disease	p.ARG267CYS	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_010536	Disease	p.ARG170GLY	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007822	Disease	p.ARG140HIS	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_010202	Polymorphism	p.ARG159HIS	N/A
Swiss-Prot	VAR_026031	Disease	p.ARG277HIS	Lissencephaly, X-linked 1 (LISX1)
Swiss-Prot	VAR_007821	Disease	p.ARG140LEU	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007824	Disease	p.ARG159LEU	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007830	Disease	p.ARG259LEU	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007827	Disease	p.ARG183SER	Lissencephaly, X-linked 1 (LISX1)
Swiss-Prot	VAR_026032	Polymorphism	p.ARG277SER	N/A
Swiss-Prot	VAR_007833	Disease	p.ARG273TRP	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_026024	Disease	p.ASN141ASP	Lissencephaly, X-linked 1 (LISX1)
Swiss-Prot	VAR_026033	Disease	p.ASN281ILE	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007834	Disease	p.ASN281LYS	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007823	Disease	p.ASP143ASN	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007825	Disease	p.ASP167HIS	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007826	Disease	p.GLY181ALA	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007842	Disease	p.GLY334ASP	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_026025	Disease	p.GLY148GLU	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007838	Disease	p.GLY304GLU	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_026035	Disease	p.GLY304VAL	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007840	Disease	p.ILE331ASN	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_026028	Disease	p.ILE185THR	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007836	Disease	p.ILE295THR	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007841	Disease	p.ILE331THR	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_026027	Disease	p.LEU178ARG	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007819	Disease	p.LEU124SER	Lissencephaly, X-linked 1 (LISX1)
Swiss-Prot	VAR_026023	Disease	p.LYS131ASN	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_026036	Disease	p.PHE324LEU	Lissencephaly, X-linked 1 (LISX1)
Swiss-Prot	VAR_007832	Disease	p.PRO272ARG	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_026030	Disease	p.PRO272LEU	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007820	Disease	p.SER128ARG	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_026034	Disease	p.THR284ALA	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007835	Disease	p.THR284ARG	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_026022	Disease	p.THR123ILE	Lissencephaly, X-linked 1 (LISX1)
Swiss-Prot	VAR_007837	Disease	p.THR303ILE	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007829	Disease	p.TYR206ASP	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007828	Disease	p.TYR206HIS	Subcortical band heterotopia X-linked (SBHX)
Swiss-Prot	VAR_007839	Disease	p.VAL317ILE	Subcortical band heterotopia X-linked (SBHX)
OMIM	300121.0014	Disease	p.ALA71SER	LISSENCEPHALY, X-LINKED, 1\|\|SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM	300121.0012	Disease	p.ARG89GLY	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED
OMIM	300121.0013	Disease	p.ARG196HIS	LISSENCEPHALY, X-LINKED, 1\|\|SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM	300121.0011	Disease	p.ARG78HIS	SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED
OMIM	300121.0005	Disease	p.ARG59LEU	LISSENCEPHALY, X-LINKED, 1\|\|SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM	300121.0002	Disease	p.ARG192TRP	LISSENCEPHALY, X-LINKED, 1\|\|SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM	300121.0001	Disease	p.ASP62ASN	LISSENCEPHALY, X-LINKED, 1\|\|SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM	300121.0007	Disease	p.SER47ARG	LISSENCEPHALY, X-LINKED, 1\|\|SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM	300121.0006	Disease	p.THR203ARG	LISSENCEPHALY, X-LINKED, 1\|\|SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED
OMIM	300121.0003	Disease	p.TYR125HIS	LISSENCEPHALY, X-LINKED, 1\|\|SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED, INCLUDED

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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