Results for the protein: Q96HA7

Results for the Protein: Q96HA7

182662416

4796

TONSL

NCBI, UniProt

TONSL_HUMAN RecName: Full=Tonsoku-like protein; AltName: Full=Inhibitor of kappa B-related protein; Short=I-kappa-B-related protein; Short=IkappaBR; AltName: Full=NF-kappa-B inhibitor-like protein 2; AltName: Full=Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2

			0 6 0 4 2

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Default View: NrfG - COG0457 TPR - cd00189 Arp - COG0666 ANK - cd00204 Ank - pfam00023 ANK - smart00248 LRR_RI - cd00116 LRR_RI - smart00368	Swiss-Prot Protein: Q96HA7 Identical to: NP_038460 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TPR	cd00189	3.5e-08	312	423
Arp	COG0666	6e-13	464	686
ANK	cd00204	4.4e-31	523	651
LRR_RI	cd00116	2.1e-05	1043	1372
Ank	pfam00023	0.00016	528	560
Ank	pfam00023	1e-08	561	593
Ank	pfam00023	1.1e-08	597	629
ANK	smart00248	4e-09	561	590
ANK	smart00248	4.9e-06	597	626
LRR_RI	smart00368	7.8e-05	1097	1124
LRR_RI	smart00368	0.00077	1128	1155

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs7830832	Polymorphism	p.ALA714VAL	N/A
dbSNP	rs2229315	Polymorphism	p.GLY493ARG	N/A
Swiss-Prot	VAR_042412	Polymorphism	p.GLY493SER	N/A
dbSNP	rs35351970	Polymorphism	p.PHE1174LEU	N/A
dbSNP	rs4925856	Polymorphism	p.PRO1276LEU	N/A
Swiss-Prot	VAR_042411	Polymorphism	p.VAL488MET	N/A

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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