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Results for the Protein: P11277
215274269

SPTB1_HUMAN RecName: Full=Spectrin beta chain, erythrocytic; AltName: Full=Beta-I spectrin

Known Diseases associated with this Protein:
  ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL
  ELLIPTOCYTOSIS 3
  ELLIPTOCYTOSIS 3 (EL3)
  ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA
  ELLIPTOCYTOSIS 3, INCLUDED
  PYROPOIKILOCYTOSIS, HEREDITARY
  SPECTRIN KISSIMMEE
  SPECTRIN PROVIDENCE
  SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT
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Tips:
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Default View:

SAC6 - COG5069
CH - pfam00307
CH - cd00014
CH - smart00033
CAMSAP_CH - pfam11971
Spectrin - pfam00435
SPEC - cd00176
SPEC - smart00150


Swiss-Prot Protein: P11277
Identical to: NP_000338
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHcd000149.4e-3255158
CHcd000149.9e-37174278
SPECcd001768.6e-20303528
SPECcd001767.7e-53529743
SPECcd001769.7e-48744954
SPECcd001768.5e-509551168
SPECcd001762.2e-3811691379
SPECcd001765.7e-5014791690
SPECcd001761.5e-3116911903
SPECcd001768.8e-3819042137
SAC6COG50696.6e-1647621
CHpfam003076.8e-3355158
CHpfam003071.1e-39174278
Spectrinpfam004359.4e-20302412
Spectrinpfam004352.8e-28422526
Spectrinpfam004353.9e-30528635
Spectrinpfam004356.8e-35637741
Spectrinpfam004353e-26743846
Spectrinpfam004353.3e-19848952
Spectrinpfam004359.7e-239541059
Spectrinpfam004352e-2610611166
Spectrinpfam004350.0001411681272
Spectrinpfam004359.9e-2912741377
Spectrinpfam004352.5e-0513811476
Spectrinpfam004352.5e-2014781582
Spectrinpfam004353.6e-2615841688
Spectrinpfam004352e-3116901795
Spectrinpfam004353.9e-2217971901
Spectrinpfam004352.6e-2719032007
CHsmart000336e-2756156
CHsmart000336.4e-33175273
CAMSAP_CHpfam119712.5e-08183259
SPECsmart001503e-24425525
SPECsmart001503.5e-21531634
SPECsmart001509.3e-30640740
SPECsmart001504.4e-21746845
SPECsmart001501.4e-23851951
SPECsmart001507.3e-249571058
SPECsmart001501e-2310641165
SPECsmart001505.4e-1811711271
SPECsmart001502.9e-2012771376
SPECsmart001502.9e-1113821475
SPECsmart001505e-2414811581
SPECsmart001501e-2315871687
SPECsmart001502e-2516931794
SPECsmart001507.8e-1718001900
SPECsmart001505.6e-2619062006
SPECsmart001506.1e-1120122130

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_001357Diseasep.ALA2018GLYElliptocytosis 3 (EL3)
Swiss-ProtVAR_001362Diseasep.ALA2053PROElliptocytosis 3 (EL3)
Swiss-ProtVAR_001359Diseasep.ALA2023VALElliptocytosis 3 (EL3)
dbSNPrs17180350 Polymorphismp.ARG1403GLNN/A
dbSNPrs77806 Polymorphismp.ASN1151ASPN/A
Swiss-ProtVAR_061084Polymorphismp.GLU525LYSN/A
dbSNPrs17245552 Polymorphismp.GLY1408ARGN/A
Swiss-ProtVAR_001355Polymorphismp.HIS1374ARGN/A
Swiss-ProtVAR_001361Diseasep.LEU2025ARGElliptocytosis 3 (EL3)
dbSNPrs229587 Polymorphismp.SER439ASNN/A
Swiss-ProtVAR_038514Polymorphismp.SER613ILEN/A
Swiss-ProtVAR_001358Diseasep.SER2019PROElliptocytosis 3 (EL3)
Swiss-ProtVAR_001352Polymorphismp.TRP202ARGN/A
Swiss-ProtVAR_001360Diseasep.TRP2024ARGElliptocytosis 3 (EL3)
OMIM182870.0008 Diseasep.ALA2018GLYPYROPOIKILOCYTOSIS, HEREDITARY||ELLIPTOCYTOSIS 3, INCLUDED
OMIM182870.0003 Diseasep.ALA2053PROELLIPTOCYTOSIS 3
OMIM182870.0012 Diseasep.ARG2064PROELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA
OMIM182870.0015 Diseasep.ARG1756TERSPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT
OMIM182870.0011 Diseasep.LEU2025ARGANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL
OMIM182870.0009 Diseasep.SER2019PROSPECTRIN PROVIDENCE
OMIM182870.0007 Diseasep.TRP202ARGSPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT||SPECTRIN KISSIMMEE



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