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Results for the Protein: NP_000480
530788276
546

transcriptional regulator ATRX isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME, SOMATIC
  ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
  MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
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Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

HepA - COG0553
DEXDc - smart00487
SNF2_N - pfam00176
DEXDc - cd00046
HELICc - cd00079
HELICc - smart00490
Helicase_C - pfam00271


RefSeq Protein: NP_000480
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
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 ↕
dbSNPrs45576533 Polymorphismp.ASN1688ILEN/A
dbSNPrs45439799 Polymorphismp.ASN1860SERN/A
dbSNPrs35738915 Polymorphismp.GLN545GLUN/A
dbSNPrs3088074 Polymorphismp.GLN929GLUN/A
dbSNPrs45528831 Polymorphismp.ILE565VALN/A
dbSNPrs45572441 Polymorphismp.MET216ILEN/A
dbSNPrs45624939 Polymorphismp.PHE847SERN/A
OMIM300032.0015 Diseasep.ARG129CYSALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0018 Diseasep.ARG246CYSALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0011 Diseasep.ARG1272GLNMENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
OMIM300032.0026 Diseasep.ARG2271GLYMENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
OMIM300032.0016 Diseasep.ARG1742LYSALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0008 Diseasep.ARG1528TERALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0022 Diseasep.ARG37TERMENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
OMIM300032.0004 Diseasep.ASN1002SERALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0005 Diseasep.ASP1177VALALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0002 Diseasep.CYS755ARGALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0025 Diseasep.CYS220TYRMENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
OMIM300032.0009 Diseasep.GLU1530TERALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0001 Diseasep.HIS750ARGALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0024 Diseasep.ILE2052THRMENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
OMIM300032.0023 Diseasep.LEU409SERMENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
OMIM300032.0003 Diseasep.LYS792ASNALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0014 Diseasep.PRO73ALAALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0012 Diseasep.PRO852SERMENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED
OMIM300032.0021 Diseasep.SER79TERALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME, SOMATIC
OMIM300032.0019 Diseasep.THR1621METALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0007 Diseasep.TYR1305CYSALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
OMIM300032.0006 Diseasep.TYR1226HISALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED



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