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Results for the Protein: Q9H4G0
14916561

E41L1_HUMAN RecName: Full=Band 4.1-like protein 1; AltName: Full=Neuronal protein 4.1; Short=4.1N

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 11
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 (MRD11)
2
0
1
0
1
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Default View:

B41 - smart00295
FERM_N - pfam09379
FERM_M - pfam00373
FERM_C-lobe - cd00836
FERM_C - pfam09380
FA - pfam08736
SAB - pfam04382
4_1_CTD - pfam05902


Swiss-Prot Protein: Q9H4G0
Identical to: NP_036288
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FERM_Mpfam003731.1e-38183288
SABpfam043823.9e-30493544
B41smart002952.3e-7194288
FERM_Npfam093791.3e-31101177
FERM_Cpfam093801.9e-43292379
FApfam087364.8e-22384430
4_1_CTDpfam059021.3e-51758869

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066600Diseasep.PRO854SERMental retardation, autosomal dominant 11 (MRD11)
OMIM602879.0001 Diseasep.PRO854SERMENTAL RETARDATION, AUTOSOMAL DOMINANT 11



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