Results for the protein: P02549

Results for the Protein: P02549

308153675

6708

SPTA1

NCBI, UniProt

SPTA1_HUMAN RecName: Full=Spectrin alpha chain, erythrocytic 1; AltName: Full=Erythroid alpha-spectrin

Known Diseases associated with this Protein:
  ELLIPTOCYTOSIS 2
  ELLIPTOCYTOSIS 2 (EL2)
  ELLIPTOCYTOSIS 2, INCLUDED
  HEREDITARY PYROPOIKILOCYTOSIS (HPP)
  PYROPOIKILOCYTOSIS, HEREDITARY
  PYROPOIKILOCYTOSIS, HEREDITARY, INCLUDED
  SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE

35

19

15

10

29

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: Spectrin - pfam00435 SPEC - cd00176 SPEC - smart00150 SH3 - smart00326 SH3 - cd00174 SH3_1 - pfam00018 EFh - cd00051 efhand_Ca_insen - pfam08726	Swiss-Prot Protein: P02549 Identical to: NP_003117 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SPEC	cd00176	5.9e-60	265	476
SPEC	cd00176	6.1e-56	477	687
SPEC	cd00176	1.1e-45	688	899
SPEC	cd00176	8.8e-09	900	1183
SH3	cd00174	1.2e-17	981	1033
SPEC	cd00176	3.1e-52	1184	1395
SPEC	cd00176	7e-50	1396	1607
SPEC	cd00176	5.7e-62	1608	1819
SPEC	cd00176	9.7e-34	1820	2035
SPEC	cd00176	1.7e-30	2044	2260
EFh	cd00051	0.0001	2275	2344
Spectrin	pfam00435	4.5e-25	53	156
Spectrin	pfam00435	7.6e-33	158	262
Spectrin	pfam00435	3.6e-33	264	368
Spectrin	pfam00435	3.4e-31	370	474
Spectrin	pfam00435	1.9e-32	476	580
Spectrin	pfam00435	2.1e-31	582	685
Spectrin	pfam00435	7e-33	687	791
Spectrin	pfam00435	5.9e-33	793	897
SH3_1	pfam00018	3.8e-17	983	1028
Spectrin	pfam00435	9.3e-21	1082	1181
Spectrin	pfam00435	6.5e-30	1183	1287
Spectrin	pfam00435	1e-29	1289	1393
Spectrin	pfam00435	2.5e-26	1395	1498
Spectrin	pfam00435	1.5e-16	1500	1605
Spectrin	pfam00435	8.9e-28	1607	1711
Spectrin	pfam00435	5.4e-37	1713	1817
Spectrin	pfam00435	5e-28	1819	1926
Spectrin	pfam00435	1.5e-26	1928	2033
Spectrin	pfam00435	5.4e-22	2043	2147
Spectrin	pfam00435	3.1e-17	2157	2258
SPEC	smart00150	5.9e-18	56	155
SPEC	smart00150	4.3e-29	161	261
SPEC	smart00150	4.7e-28	267	367
SPEC	smart00150	2.1e-28	373	473
SPEC	smart00150	4.9e-30	479	579
SPEC	smart00150	9.8e-28	585	684
SPEC	smart00150	2.1e-24	690	790
SPEC	smart00150	1.5e-26	796	896
SPEC	smart00150	2e-52	902	1079
SH3	smart00326	4.2e-18	978	1034
SPEC	smart00150	3.3e-16	1085	1180
SPEC	smart00150	5.4e-25	1186	1286
SPEC	smart00150	2.9e-26	1292	1392
SPEC	smart00150	1.9e-24	1398	1497
SPEC	smart00150	2.4e-24	1503	1604
SPEC	smart00150	3.1e-26	1610	1710
SPEC	smart00150	6.7e-31	1716	1816
SPEC	smart00150	2.4e-17	1822	1925
SPEC	smart00150	4.9e-19	1931	2032
SPEC	smart00150	2.4e-13	2046	2146
SPEC	smart00150	0.0002	2160	2257
efhand_Ca_insen	pfam08726	2.3e-36	2350	2418

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_001349	Polymorphism	p.ALA970ASP	N/A
Swiss-Prot	VAR_001351	Polymorphism	p.ALA2025GLY	N/A
dbSNP	rs77877855	Polymorphism	p.ALA1998PRO	N/A
Swiss-Prot	VAR_038508	Polymorphism	p.ALA766THR	N/A
dbSNP	rs34706737	Polymorphism	p.ALA957VAL	N/A
dbSNP	rs78394850	Polymorphism	p.ARG2016CYS	N/A
Swiss-Prot	VAR_001328	Disease	p.ARG28CYS	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001325	Disease	p.ARG28HIS	Elliptocytosis 2 (EL2)
dbSNP	rs12090314	Polymorphism	p.ARG701HIS	N/A
Swiss-Prot	VAR_038511	Polymorphism	p.ARG1330ILE	N/A
Swiss-Prot	VAR_001326	Disease	p.ARG28LEU	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001327	Disease	p.ARG28SER	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001332	Disease	p.ARG45SER	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001333	Disease	p.ARG45THR	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001330	Disease	p.ARG34TRP	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001331	Disease	p.ARG41TRP	Elliptocytosis 2 (EL2)
dbSNP	rs16830483	Polymorphism	p.ASN1836SER	N/A
dbSNP	rs16840544	Polymorphism	p.ASP152ASN	N/A
dbSNP	rs7418956	Polymorphism	p.ASP791GLU	N/A
Swiss-Prot	VAR_001346	Disease	p.ASP791GLU	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_038512	Polymorphism	p.CYS1568ARG	N/A
Swiss-Prot	VAR_001344	Disease	p.GLN471PRO	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001337	Disease	p.GLY151ASP	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001334	Disease	p.GLY46VAL	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001342	Disease	p.HIS469PRO	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001324	Disease	p.ILE24SER	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_059201	Polymorphism	p.ILE2265THR	N/A
dbSNP	rs7547313	Polymorphism	p.ILE809VAL	N/A
Swiss-Prot	VAR_001336	Disease	p.LEU49PHE	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001339	Disease	p.LEU207PRO	Hereditary pyropoikilocytosis (HPP)
Swiss-Prot	VAR_001340	Disease	p.LEU260PRO	Elliptocytosis 2 (EL2)
Swiss-Prot	VAR_001350	Polymorphism	p.LEU1858VAL	N/A
Swiss-Prot	VAR_001335	Disease	p.LYS48ARG	Hereditary pyropoikilocytosis (HPP)
dbSNP	rs857725	Polymorphism	p.LYS1693GLN	N/A
Swiss-Prot	VAR_038510	Polymorphism	p.SER1163ALA	N/A
Swiss-Prot	VAR_038506	Polymorphism	p.SER109PHE	N/A
Swiss-Prot	VAR_001341	Disease	p.SER261PRO	Elliptocytosis 2 (EL2)
dbSNP	rs35121052	Polymorphism	p.THR853ARG	N/A
Swiss-Prot	VAR_001329	Disease	p.VAL31ALA	Elliptocytosis 2 (EL2)
OMIM	182860.0009	Disease	p.ALA970ASP	SPHEROCYTOSIS, TYPE 3, AUTOSOMAL RECESSIVE
OMIM	182860.0013	Disease	p.ARG28CYS	ELLIPTOCYTOSIS 2\|\|PYROPOIKILOCYTOSIS, HEREDITARY, INCLUDED
OMIM	182860.0014	Disease	p.ARG28HIS	ELLIPTOCYTOSIS 2\|\|PYROPOIKILOCYTOSIS, HEREDITARY, INCLUDED
OMIM	182860.0011	Disease	p.ARG28LEU	ELLIPTOCYTOSIS 2
OMIM	182860.0012	Disease	p.ARG28SER	ELLIPTOCYTOSIS 2\|\|PYROPOIKILOCYTOSIS, HEREDITARY, INCLUDED
OMIM	182860.0005	Disease	p.ARG45SER	PYROPOIKILOCYTOSIS, HEREDITARY\|\|ELLIPTOCYTOSIS 2, INCLUDED
OMIM	182860.0010	Disease	p.ARG41TRP	ELLIPTOCYTOSIS 2
OMIM	182860.0018	Disease	p.ASP791GLU	ELLIPTOCYTOSIS 2
OMIM	182860.0002	Disease	p.GLN471PRO	ELLIPTOCYTOSIS 2
OMIM	182860.0006	Disease	p.GLY46VAL	ELLIPTOCYTOSIS 2
OMIM	182860.0007	Disease	p.LEU48PHE	ELLIPTOCYTOSIS 2
OMIM	182860.0016	Disease	p.LEU207PRO	PYROPOIKILOCYTOSIS, HEREDITARY\|\|ELLIPTOCYTOSIS 2, INCLUDED
OMIM	182860.0001	Disease	p.LEU260PRO	ELLIPTOCYTOSIS 2
OMIM	182860.0017	Disease	p.LYS48ARG	PYROPOIKILOCYTOSIS, HEREDITARY
OMIM	182860.0004	Disease	p.SER261PRO	ELLIPTOCYTOSIS 2

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.

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