Results for the protein: Q06187

Results for the Protein: Q06187

547759

695

BTK

NCBI, UniProt

BTK_HUMAN RecName: Full=Tyrosine-protein kinase BTK; AltName: Full=Agammaglobulinemia tyrosine kinase; Short=ATK; AltName: Full=B-cell progenitor kinase; Short=BPK; AltName: Full=Bruton tyrosine kinase

Known Diseases associated with this Protein:
X-LINKED AGAMMAGLOBULINEMIA (XLA)

110

3

0

0

113

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: PH - smart00233 BTK - smart00107 SH3 - smart00326 SH3_2 - pfam07653 SH2 - smart00252 STYKc - smart00221 TyrKc - smart00219 Pkinase_Tyr - pfam07714 S_TKc - smart00220	Swiss-Prot Protein: Q06187 Identical to: NP_000052 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BTK	smart00107	9.9e-24	135	170
SH3	smart00326	8.7e-22	215	272
SH3_2	pfam07653	2.8e-05	218	271
SH2	smart00252	1.5e-33	279	368
Pkinase_Tyr	pfam07714	1.7e-146	402	651
TyrKc	smart00219	1.9e-137	402	651
STYKc	smart00221	1.1e-60	402	653
S_TKc	smart00220	8.3e-48	412	655

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_008318	Disease	p.ALA508ASP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006271	Disease	p.ALA607ASP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008322	Disease	p.ALA523GLU	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008332	Disease	p.ALA622PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006263	Disease	p.ALA582VAL	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008293	Disease	p.ARG28CYS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006277	Disease	p.ARG641CYS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008305	Disease	p.ARG288GLN	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006251	Disease	p.ARG520GLN	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006255	Disease	p.ARG525GLN	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006231	Disease	p.ARG307GLY	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008312	Disease	p.ARG372GLY	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008323	Disease	p.ARG525GLY	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008963	Disease	p.ARG544GLY	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006220	Disease	p.ARG28HIS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006278	Disease	p.ARG641HIS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006258	Disease	p.ARG544LYS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_041676	Polymorphism	p.ARG82LYS	N/A
Swiss-Prot	VAR_006221	Disease	p.ARG28PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006254	Disease	p.ARG525PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006259	Disease	p.ARG562PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008307	Disease	p.ARG307THR	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006227	Disease	p.ARG288TRP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006260	Disease	p.ARG562TRP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006256	Disease	p.ASN526LYS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006237	Disease	p.ASN365TYR	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006253	Disease	p.ASP521ASN	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008308	Disease	p.ASP308GLU	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008321	Disease	p.ASP521GLY	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006252	Disease	p.ASP521HIS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008303	Disease	p.CYS155ARG	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006247	Disease	p.CYS506ARG	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008302	Disease	p.CYS155GLY	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006245	Disease	p.CYS502PHE	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008301	Disease	p.CYS154SER	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006246	Disease	p.CYS502TRP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006248	Disease	p.CYS506TYR	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006276	Disease	p.CYS633TYR	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008300	Disease	p.GLN127HIS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008315	Disease	p.GLU445ASP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008328	Disease	p.GLU589ASP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006265	Disease	p.GLU589GLY	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006261	Disease	p.GLU567LYS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008965	Disease	p.GLU589LYS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008306	Disease	p.GLY302ARG	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008313	Disease	p.GLY414ARG	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006269	Disease	p.GLY594ARG	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008316	Disease	p.GLY462ASP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006272	Disease	p.GLY613ASP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006230	Disease	p.GLY302GLU	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006268	Disease	p.GLY594GLU	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008317	Disease	p.GLY462VAL	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006235	Disease	p.HIS362GLN	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006236	Disease	p.HIS364PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006241	Disease	p.ILE429ASN	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008296	Disease	p.ILE61ASN	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006238	Disease	p.ILE370MET	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008320	Disease	p.LEU518ARG	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008962	Disease	p.LEU512GLN	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006233	Disease	p.LEU358PHE	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008311	Disease	p.LEU369PHE	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006216	Disease	p.LEU11PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006228	Disease	p.LEU295PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006239	Disease	p.LEU408PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008961	Disease	p.LEU512PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006257	Disease	p.LEU542PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006280	Disease	p.LEU647PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006281	Disease	p.LEU652PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006217	Disease	p.LYS12ARG	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008292	Disease	p.LYS27ARG	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008314	Disease	p.LYS430ARG	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008291	Disease	p.LYS19GLU	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006242	Disease	p.LYS430GLU	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006244	Disease	p.MET477ARG	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008319	Disease	p.MET509ILE	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006274	Polymorphism	p.MET630ILE	N/A
Swiss-Prot	VAR_006264	Disease	p.MET587LEU	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006275	Disease	p.MET630LYS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008334	Disease	p.MET630THR	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006249	Disease	p.MET509VAL	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008335	Disease	p.PHE644LEU	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006219	Disease	p.PHE25SER	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008325	Disease	p.PHE559SER	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008327	Disease	p.PHE583SER	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006279	Disease	p.PHE644SER	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008330	Disease	p.PRO619ALA	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_041677	Polymorphism	p.PRO190LYS	N/A
Swiss-Prot	VAR_006273	Disease	p.PRO619SER	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008331	Disease	p.PRO619THR	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008298	Disease	p.SER115PHE	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006218	Disease	p.SER14PHE	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008310	Disease	p.SER366PHE	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006267	Disease	p.SER592PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008964	Disease	p.SER578TYR	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008299	Disease	p.THR117PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008304	Disease	p.THR184PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006222	Disease	p.THR33PRO	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006262	Disease	p.TRP581ARG	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008326	Disease	p.TRP563LEU	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008295	Disease	p.TYR40ASN	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006243	Disease	p.TYR476ASP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006234	Disease	p.TYR361CYS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008294	Disease	p.TYR40CYS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006270	Disease	p.TYR598CYS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006240	Disease	p.TYR418HIS	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006232	Disease	p.TYR334SER	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008960	Disease	p.TYR39SER	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008309	Disease	p.VAL319ALA	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006225	Disease	p.VAL113ASP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008297	Disease	p.VAL64ASP	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008333	Disease	p.VAL626GLY	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_008324	Disease	p.VAL535PHE	X-linked agammaglobulinemia (XLA)
Swiss-Prot	VAR_006223	Disease	p.VAL64PHE	X-linked agammaglobulinemia (XLA)

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