Results for the protein: NP

Results for the Protein: NP_008877

5902122

6712

SPTBN2

NCBI

spectrin beta chain, non-erythrocytic 2 [Homo sapiens]

Known Diseases associated with this Protein:
SPINOCEREBELLAR ATAXIA 5
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14

3

1

3

1

0

Tips:

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Default View: CH - smart00033 CAMSAP_CH - pfam11971 SPEC - smart00150 PH - smart00233	RefSeq Protein: NP_008877 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CH	smart00033	6.2e-23	178	276
CAMSAP_CH	pfam11971	9.2e-05	186	262
SPEC	smart00150	1.1e-22	428	528
SPEC	smart00150	1.7e-26	534	638
SPEC	smart00150	6e-27	644	744
SPEC	smart00150	3.4e-22	750	849
SPEC	smart00150	3.8e-19	855	955
SPEC	smart00150	3e-24	961	1062
SPEC	smart00150	1.6e-20	1068	1169
SPEC	smart00150	3e-22	1175	1275
SPEC	smart00150	4.7e-20	1281	1380
SPEC	smart00150	1.8e-24	1386	1485
SPEC	smart00150	1.5e-22	1491	1585
SPEC	smart00150	6.7e-25	1591	1691
SPEC	smart00150	2.1e-23	1697	1798
SPEC	smart00150	4.2e-21	1804	1904
SPEC	smart00150	1.7e-23	1910	2010
PH	smart00233	4.3e-18	2219	2328

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs506028	Polymorphism	p.VAL1034ALA	N/A
OMIM	604985.0005	Disease	p.ARG480TRP	SPINOCEREBELLAR ATAXIA 5
OMIM	604985.0004	Disease	p.CYS627TER	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
OMIM	604985.0003	Disease	p.LEU253PRO	SPINOCEREBELLAR ATAXIA 5

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