Results for the protein: P46100

Results for the Protein: P46100

311033500

546

ATRX

NCBI, UniProt

ATRX_HUMAN RecName: Full=Transcriptional regulator ATRX; AltName: Full=ATP-dependent helicase ATRX; AltName: Full=X-linked helicase II; AltName: Full=X-linked nuclear protein; Short=XNP; AltName: Full=Znf-HX

Known Diseases associated with this Protein:
ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME, X-LINKED (ATRX)
MENTAL RETARDATION, X-LINKED, SYNDROMIC, WITH HYPOTONIC FACIES 1 (MRXSHF1)

33

6

0

0

39

Tips:

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Default View: HepA - COG0553 DEXDc - smart00487 SNF2_N - pfam00176 DEXDc - cd00046 HELICc - cd00079 HELICc - smart00490 Helicase_C - pfam00271	Swiss-Prot Protein: P46100 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DEXDc	cd00046	9.4e-20	1588	1750
HELICc	cd00079	1.1e-20	2008	2163
SNF2_N	pfam00176	2.1e-153	1563	1887
Helicase_C	pfam00271	1.1e-21	2074	2155
DEXDc	smart00487	2.6e-25	1552	1776
HELICc	smart00490	5.8e-19	2069	2155

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_001232	Disease	p.ARG246CYS	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_001240	Disease	p.ARG2131GLN	Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1)
Swiss-Prot	VAR_032627	Disease	p.ARG2271GLY	Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1)
Swiss-Prot	VAR_010914	Disease	p.ARG246LEU	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012125	Disease	p.ARG1742LYS	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012115	Disease	p.ASN179SER	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_001237	Polymorphism	p.ASN1860SER	N/A
Swiss-Prot	VAR_001238	Disease	p.ASP2035VAL	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_001235	Disease	p.CYS1614ARG	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_001229	Disease	p.CYS220ARG	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_001231	Disease	p.CYS243PHE	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_001228	Disease	p.CYS200SER	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_032625	Disease	p.CYS220TYR	Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1)
Swiss-Prot	VAR_055939	Polymorphism	p.GLN545GLU	N/A
Swiss-Prot	VAR_023438	Polymorphism	p.GLN929GLU	N/A
Swiss-Prot	VAR_012119	Disease	p.GLN219PRO	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_016915	Polymorphism	p.GLU740GLY	N/A
Swiss-Prot	VAR_001233	Disease	p.GLY249ASP	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012120	Disease	p.GLY249CYS	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012113	Disease	p.GLY175GLU	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_001234	Disease	p.HIS1609ARG	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012127	Disease	p.ILE2050THR	Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1)
Swiss-Prot	VAR_001227	Disease	p.LEU192PHE	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012123	Disease	p.LEU1645SER	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_032626	Disease	p.LEU409SER	Mental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1)
Swiss-Prot	VAR_001236	Disease	p.LYS1650ASN	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_001226	Disease	p.PRO190ALA	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012116	Disease	p.PRO190LEU	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012124	Disease	p.PRO1713SER	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012117	Disease	p.PRO190SER	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_016914	Polymorphism	p.SER596PRO	N/A
Swiss-Prot	VAR_016916	Disease	p.THR1621MET	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_001230	Disease	p.TRP222SER	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012126	Disease	p.TYR1847CYS	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_001241	Disease	p.TYR2163CYS	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_001239	Disease	p.TYR2084HIS	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012121	Polymorphism	p.VAL1538GLY	N/A
Swiss-Prot	VAR_012118	Disease	p.VAL194ILE	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-Prot	VAR_012122	Disease	p.VAL1552PHE	Alpha-thalassemia mental retardation syndrome, X-linked (ATRX)

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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