Results for the protein: A6QL63

Results for the Protein: A6QL63

269849706

121551

BTBD11

NCBI, UniProt

BTBDB_HUMAN RecName: Full=Ankyrin repeat and BTB/POZ domain-containing protein BTBD11; AltName: Full=BTB/POZ domain-containing protein 11

			0 6 0 5 1

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Default View: Arp - COG0666 ANK - cd00204 Ank - pfam00023 ANK - smart00248 BTB - pfam00651 BTB - smart00225	Swiss-Prot Protein: A6QL63 Identical to: NP_001018082 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ANK	cd00204	7.4e-22	598	751
Ank	pfam00023	1.4e-08	603	635
Ank	pfam00023	5.9e-05	687	719
BTB	pfam00651	5.2e-22	912	1013
ANK	smart00248	2.2e-08	603	632
ANK	smart00248	0.00064	649	678
ANK	smart00248	9e-05	687	716
BTB	smart00225	9.6e-22	924	1015

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_042534	Polymorphism	p.ALA1002ASP	N/A
dbSNP	rs78068108	Polymorphism	p.ALA1044THR	N/A
dbSNP	rs111260184	Polymorphism	p.ALA327THR	N/A
dbSNP	rs961498	Polymorphism	p.GLY265ALA	N/A
dbSNP	rs12303478	Polymorphism	p.GLY1076SER	N/A
dbSNP	rs1558781	Polymorphism	p.GLY448SER	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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