Results for the protein: P11277

Results for the Protein: P11277

215274269

6710

SPTB

NCBI, UniProt

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

13

8

7

4

10

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

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 ↕
CH	cd00014	9.9e-37	174	278
SPEC	cd00176	8.6e-20	303	528
SPEC	cd00176	7.7e-53	529	743
SPEC	cd00176	9.7e-48	744	954
SPEC	cd00176	8.5e-50	955	1168
SPEC	cd00176	2.2e-38	1169	1379
SPEC	cd00176	5.7e-50	1479	1690
SPEC	cd00176	1.5e-31	1691	1903
SPEC	cd00176	8.8e-38	1904	2137
SAC6	COG5069	6.6e-16	47	621
CH	pfam00307	6.8e-33	55	158
CH	pfam00307	1.1e-39	174	278
Spectrin	pfam00435	9.4e-20	302	412
Spectrin	pfam00435	2.8e-28	422	526
Spectrin	pfam00435	3.9e-30	528	635
Spectrin	pfam00435	6.8e-35	637	741
Spectrin	pfam00435	3e-26	743	846
Spectrin	pfam00435	3.3e-19	848	952
Spectrin	pfam00435	9.7e-23	954	1059
Spectrin	pfam00435	2e-26	1061	1166
Spectrin	pfam00435	0.00014	1168	1272
Spectrin	pfam00435	9.9e-29	1274	1377
Spectrin	pfam00435	2.5e-05	1381	1476
Spectrin	pfam00435	2.5e-20	1478	1582
Spectrin	pfam00435	3.6e-26	1584	1688
Spectrin	pfam00435	2e-31	1690	1795
Spectrin	pfam00435	3.9e-22	1797	1901
Spectrin	pfam00435	2.6e-27	1903	2007
CH	smart00033	6e-27	56	156
CH	smart00033	6.4e-33	175	273
CAMSAP_CH	pfam11971	2.5e-08	183	259
SPEC	smart00150	3e-24	425	525
SPEC	smart00150	3.5e-21	531	634
SPEC	smart00150	9.3e-30	640	740
SPEC	smart00150	4.4e-21	746	845
SPEC	smart00150	1.4e-23	851	951
SPEC	smart00150	7.3e-24	957	1058
SPEC	smart00150	1e-23	1064	1165
SPEC	smart00150	5.4e-18	1171	1271
SPEC	smart00150	2.9e-20	1277	1376
SPEC	smart00150	2.9e-11	1382	1475
SPEC	smart00150	5e-24	1481	1581
SPEC	smart00150	1e-23	1587	1687
SPEC	smart00150	2e-25	1693	1794
SPEC	smart00150	7.8e-17	1800	1900
SPEC	smart00150	5.6e-26	1906	2006
SPEC	smart00150	6.1e-11	2012	2130

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_001357	Disease	p.ALA2018GLY	Elliptocytosis 3 (EL3)
Swiss-Prot	VAR_001362	Disease	p.ALA2053PRO	Elliptocytosis 3 (EL3)
Swiss-Prot	VAR_001359	Disease	p.ALA2023VAL	Elliptocytosis 3 (EL3)
dbSNP	rs17180350	Polymorphism	p.ARG1403GLN	N/A
dbSNP	rs77806	Polymorphism	p.ASN1151ASP	N/A
Swiss-Prot	VAR_061084	Polymorphism	p.GLU525LYS	N/A
dbSNP	rs17245552	Polymorphism	p.GLY1408ARG	N/A
Swiss-Prot	VAR_001355	Polymorphism	p.HIS1374ARG	N/A
Swiss-Prot	VAR_001361	Disease	p.LEU2025ARG	Elliptocytosis 3 (EL3)
dbSNP	rs229587	Polymorphism	p.SER439ASN	N/A
Swiss-Prot	VAR_038514	Polymorphism	p.SER613ILE	N/A
Swiss-Prot	VAR_001358	Disease	p.SER2019PRO	Elliptocytosis 3 (EL3)
Swiss-Prot	VAR_001352	Polymorphism	p.TRP202ARG	N/A
Swiss-Prot	VAR_001360	Disease	p.TRP2024ARG	Elliptocytosis 3 (EL3)
OMIM	182870.0008	Disease	p.ALA2018GLY	PYROPOIKILOCYTOSIS, HEREDITARY\|\|ELLIPTOCYTOSIS 3, INCLUDED
OMIM	182870.0003	Disease	p.ALA2053PRO	ELLIPTOCYTOSIS 3
OMIM	182870.0012	Disease	p.ARG2064PRO	ELLIPTOCYTOSIS 3 DUE TO SPECTRIN COSENZA
OMIM	182870.0015	Disease	p.ARG1756TER	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT
OMIM	182870.0011	Disease	p.LEU2025ARG	ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL
OMIM	182870.0009	Disease	p.SER2019PRO	SPECTRIN PROVIDENCE
OMIM	182870.0007	Disease	p.TRP202ARG	SPHEROCYTOSIS, TYPE 2, AUTOSOMAL DOMINANT\|\|SPECTRIN KISSIMMEE

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258