Results for the protein: Q9H4B7

Results for the Protein: Q9H4B7

62903515

81027

TUBB1

NCBI, UniProt

TBB1_HUMAN RecName: Full=Tubulin beta-1 chain

Known Diseases associated with this Protein:
MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED
MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED (MAD-TUBB1)

2

6

1

5

2

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: COG5023 - COG5023 alpha_tubulin - cd02186 epsilon_tubulin - cd02190 gamma_tubulin - cd02188 beta_tubulin - cd02187 Tubulin - cd06059 delta_tubulin - cd02189 Tubulin_FtsZ - cd00286 Tubulin - pfam00091 Tubulin - smart00864 Tubulin_C - smart00865 Tubulin_C - pfam03953	Swiss-Prot Protein: Q9H4B7 Identical to: NP_110400 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
beta_tubulin	cd02187		2	426
gamma_tubulin	cd02188	3.9e-105	2	422
epsilon_tubulin	cd02190	1.1e-78	2	425
Tubulin_FtsZ	cd00286	1.3e-167	3	371
delta_tubulin	cd02189	2.4e-37	3	424
Tubulin	cd06059	3.7e-203	3	424
COG5023	COG5023	6.8e-269	1	442
Tubulin	pfam00091	4.7e-86	4	224
Tubulin_C	pfam03953	5.5e-75	261	383
Tubulin	smart00864	2.9e-65	46	244
Tubulin_C	smart00865	3e-30	246	383

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs62639974	Polymorphism	p.ARG307CYS	N/A
dbSNP	rs6070697	Polymorphism	p.ARG307HIS	N/A
Swiss-Prot	VAR_063411	Disease	p.ARG318TRP	Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1)
dbSNP	rs415064	Polymorphism	p.GLN43HIS	N/A
dbSNP	rs463312	Polymorphism	p.GLN43PRO	N/A
Swiss-Prot	VAR_052671	Polymorphism	p.THR274MET	N/A
dbSNP	rs115253190	Polymorphism	p.VAL349ILE	N/A
OMIM	612901.0001	Disease	p.ARG318TRP	MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED

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