Results for the protein: Q8WXI3

Results for the Protein: Q8WXI3

126302522

136371

ASB10

NCBI, UniProt

ASB10_HUMAN RecName: Full=Ankyrin repeat and SOCS box protein 10; Short=ASB-10

Known Diseases associated with this Protein:
GLAUCOMA 1, OPEN ANGLE, F

4

28

4

5

23

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: Arp - COG0666 ANK - cd00204 ANK - smart00248 Ank - pfam00023 SOCS - smart00253 SOCS_ASB_like - cd03716 SOCS_ASB4_ASB18 - cd03723 SOCS - cd03587 SOCS_box - pfam07525	Swiss-Prot Protein: Q8WXI3 Identical to: NP_001135931 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ANK	cd00204	4.3e-33	110	235
ANK	cd00204	8.9e-16	242	394
SOCS_ASB_like	cd03716	1.6e-11	420	461
SOCS_ASB4_ASB18	cd03723	1.1e-12	420	467
SOCS	cd03587	8.3e-11	421	461
Ank	pfam00023	0.0003	115	147
Ank	pfam00023	0.00013	148	179
Ank	pfam00023	1.6e-08	214	246
Ank	pfam00023	7.5e-07	293	325
ANK	smart00248	4.1e-05	115	144
ANK	smart00248	1.5e-06	147	176
ANK	smart00248	4.3e-05	214	243
ANK	smart00248	0.00042	293	322
SOCS	smart00253	9.6e-05	416	461
SOCS_box	pfam07525	2.2e-11	422	459

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069884	Polymorphism	p.ALA320THR	N/A
dbSNP	rs77615410	Polymorphism	p.ALA157VAL	N/A
Swiss-Prot	VAR_069875	Polymorphism	p.ALA172VAL	N/A
Swiss-Prot	VAR_069878	Polymorphism	p.ALA197VAL	N/A
Swiss-Prot	VAR_069876	Polymorphism	p.ARG183CYS	N/A
Swiss-Prot	VAR_069883	Polymorphism	p.ARG304CYS	N/A
dbSNP	rs62489646	Polymorphism	p.ARG372CYS	N/A
dbSNP	rs3800791	Polymorphism	p.ARG453CYS	N/A
Swiss-Prot	VAR_069873	Polymorphism	p.ARG94GLN	N/A
Swiss-Prot	VAR_069880	Polymorphism	p.ARG237GLY	N/A
Swiss-Prot	VAR_069881	Polymorphism	p.ARG272HIS	N/A
Swiss-Prot	VAR_069888	Polymorphism	p.ARG360HIS	N/A
Swiss-Prot	VAR_069870	Polymorphism	p.ARG72HIS	N/A
Swiss-Prot	VAR_069877	Polymorphism	p.ARG189TRP	N/A
dbSNP	rs61628535	Polymorphism	p.ARG378TRP	N/A
Swiss-Prot	VAR_069874	Polymorphism	p.ASP97GLU	N/A
Swiss-Prot	VAR_069872	Polymorphism	p.ASP91TYR	N/A
Swiss-Prot	VAR_069871	Polymorphism	p.ASP88VAL	N/A
Swiss-Prot	VAR_069882	Polymorphism	p.GLN295LEU	N/A
Swiss-Prot	VAR_069868	Polymorphism	p.GLY65GLU	N/A
Swiss-Prot	VAR_069886	Polymorphism	p.HIS332GLN	N/A
Swiss-Prot	VAR_069887	Polymorphism	p.HIS356TYR	N/A
dbSNP	rs919533	Polymorphism	p.PRO402THR	N/A
Swiss-Prot	VAR_069891	Polymorphism	p.SER440GLY	N/A
Swiss-Prot	VAR_069885	Polymorphism	p.THR329MET	N/A
Swiss-Prot	VAR_069867	Polymorphism	p.THR48SER	N/A
Swiss-Prot	VAR_069879	Polymorphism	p.VAL207LEU	N/A
Swiss-Prot	VAR_069869	Polymorphism	p.VAL67MET	N/A
OMIM	615054.0004	Disease	p.ARG72HIS	GLAUCOMA 1, OPEN ANGLE, F
OMIM	615054.0002	Disease	p.CYS173TER	GLAUCOMA 1, OPEN ANGLE, F
OMIM	615054.0001	Disease	p.THR255THR	GLAUCOMA 1, OPEN ANGLE, F
OMIM	615054.0003	Disease	p.VAL192LEU	GLAUCOMA 1, OPEN ANGLE, F

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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