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Results for the Protein: P46100
311033500
546

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
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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 ↕
HepACOG05532.5e-5911712211
DEXDccd000469.4e-2015881750
HELICccd000791.1e-2020082163
SNF2_Npfam001762.1e-15315631887
Helicase_Cpfam002711.1e-2120742155
DEXDcsmart004872.6e-2515521776
HELICcsmart004905.8e-1920692155

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_001232Diseasep.ARG246CYSAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_001240Diseasep.ARG2131GLNMental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1)
Swiss-ProtVAR_032627Diseasep.ARG2271GLYMental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1)
Swiss-ProtVAR_010914Diseasep.ARG246LEUAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012125Diseasep.ARG1742LYSAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012115Diseasep.ASN179SERAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_001237Polymorphismp.ASN1860SERN/A
Swiss-ProtVAR_001238Diseasep.ASP2035VALAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_001235Diseasep.CYS1614ARGAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_001229Diseasep.CYS220ARGAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_001231Diseasep.CYS243PHEAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_001228Diseasep.CYS200SERAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_032625Diseasep.CYS220TYRMental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1)
Swiss-ProtVAR_055939Polymorphismp.GLN545GLUN/A
Swiss-ProtVAR_023438Polymorphismp.GLN929GLUN/A
Swiss-ProtVAR_012119Diseasep.GLN219PROAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_016915Polymorphismp.GLU740GLYN/A
Swiss-ProtVAR_001233Diseasep.GLY249ASPAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012120Diseasep.GLY249CYSAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012113Diseasep.GLY175GLUAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_001234Diseasep.HIS1609ARGAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012127Diseasep.ILE2050THRMental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1)
Swiss-ProtVAR_001227Diseasep.LEU192PHEAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012123Diseasep.LEU1645SERAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_032626Diseasep.LEU409SERMental retardation, X-linked, syndromic, with hypotonic facies 1 (MRXSHF1)
Swiss-ProtVAR_001236Diseasep.LYS1650ASNAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_001226Diseasep.PRO190ALAAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012116Diseasep.PRO190LEUAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012124Diseasep.PRO1713SERAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012117Diseasep.PRO190SERAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_016914Polymorphismp.SER596PRON/A
Swiss-ProtVAR_016916Diseasep.THR1621METAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_001230Diseasep.TRP222SERAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012126Diseasep.TYR1847CYSAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_001241Diseasep.TYR2163CYSAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_001239Diseasep.TYR2084HISAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012121Polymorphismp.VAL1538GLYN/A
Swiss-ProtVAR_012118Diseasep.VAL194ILEAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)
Swiss-ProtVAR_012122Diseasep.VAL1552PHEAlpha-thalassemia mental retardation syndrome, X-linked (ATRX)



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