Results for the protein: Q13509

Results for the Protein: Q13509

20455526

10381

TUBB3

NCBI, UniProt

TBB3_HUMAN RecName: Full=Tubulin beta-3 chain; AltName: Full=Tubulin beta-4 chain; AltName: Full=Tubulin beta-III

Known Diseases associated with this Protein:
  CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES 3A (CFEOM3A)
  CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
  CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 (CDCBM1)
  FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR
  INVOLVEMENT

21

0

9

0

12

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: alpha_tubulin - cd02186 epsilon_tubulin - cd02190 gamma_tubulin - cd02188 beta_tubulin - cd02187 Tubulin - cd06059 Tubulin_FtsZ - cd00286 delta_tubulin - cd02189 Tubulin - smart00864 Tubulin_C - smart00865	Swiss-Prot Protein: Q13509 Identical to: NP_006077 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
beta_tubulin	cd02187		2	426
gamma_tubulin	cd02188	2.4e-112	2	422
epsilon_tubulin	cd02190	2.1e-74	2	425
Tubulin_FtsZ	cd00286	8.2e-184	3	371
delta_tubulin	cd02189	1.7e-36	3	424
Tubulin	cd06059	5.6e-218	3	424
Tubulin	smart00864	5.1e-60	46	244
Tubulin_C	smart00865	1.3e-38	246	383

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_062761	Disease	p.ALA302THR	Congenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-Prot	VAR_066208	Disease	p.ALA302VAL	Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1)
Swiss-Prot	VAR_062759	Disease	p.ARG262CYS	Congenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-Prot	VAR_062762	Disease	p.ARG380CYS	Congenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-Prot	VAR_062758	Disease	p.ARG62GLN	Congenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-Prot	VAR_062760	Disease	p.ARG262HIS	Congenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-Prot	VAR_062765	Disease	p.ASP417ASN	Congenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-Prot	VAR_062764	Disease	p.ASP417HIS	Congenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-Prot	VAR_066207	Disease	p.GLU205LYS	Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1)
Swiss-Prot	VAR_062763	Disease	p.GLU410LYS	Congenital fibrosis of extraocular muscles 3A (CFEOM3A)
Swiss-Prot	VAR_066209	Disease	p.MET323VAL	Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1)
Swiss-Prot	VAR_066206	Disease	p.THR178MET	Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1)
OMIM	602661.0002	Disease	p.ALA302THR	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR\|\|INVOLVEMENT
OMIM	602661.0008	Disease	p.ALA302VAL	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
OMIM	602661.0001	Disease	p.ARG262CYS	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR\|\|INVOLVEMENT
OMIM	602661.0004	Disease	p.ASP417ASN	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR\|\|INVOLVEMENT
OMIM	602661.0003	Disease	p.ASP417HIS	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR\|\|INVOLVEMENT
OMIM	602661.0007	Disease	p.GLU205LYS	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
OMIM	602661.0005	Disease	p.GLU410LYS	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR\|\|INVOLVEMENT
OMIM	602661.0009	Disease	p.MET323VAL	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
OMIM	602661.0006	Disease	p.THR178MET	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1

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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