Results for the protein: Q30154

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IgC_MHC_II_alpha	cd05767	3.2e-13	125	218
IgC_beta2m	cd05770	1.6e-15	125	218
IgC_L	cd07699	1.4e-06	125	219
IgC_MHC_II_beta	cd05766	1.3e-52	126	219
IgC_CH4	cd05768	8.4e-05	126	216
IgC	cd00098	2.5e-28	128	218
IgC_CH2_IgE	cd05847	9.5e-05	128	216
Ig	cd00096	3.6e-06	142	216
MHC_II_beta	pfam00969	2e-53	42	116
C1-set	pfam07654	6e-37	132	214
IGc1	smart00407	2.2e-26	141	212

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs41562816	Polymorphism	p.ALA87ASP	N/A
Swiss-Prot	VAR_060974	Polymorphism	p.ALA103GLU	N/A
Swiss-Prot	VAR_060961	Polymorphism	p.ALA87GLU	N/A
dbSNP	rs138927633	Polymorphism	p.ALA102GLY	N/A
Swiss-Prot	VAR_060975	Polymorphism	p.ALA103LEU	N/A
dbSNP	rs41548618	Polymorphism	p.ALA103PRO	N/A
dbSNP	rs114131132	Polymorphism	p.ALA133SER	N/A
dbSNP	rs75709987	Polymorphism	p.ALA169SER	N/A
dbSNP	rs71549220	Polymorphism	p.ALA29SER	N/A
dbSNP	rs1059598	Polymorphism	p.ALA103VAL	N/A
Swiss-Prot	VAR_060971	Polymorphism	p.ARG100ALA	N/A
Swiss-Prot	VAR_060954	Polymorphism	p.ARG35CYS	N/A
dbSNP	rs148933006	Polymorphism	p.ARG195GLN	N/A
dbSNP	rs34716432	Polymorphism	p.ARG33GLN	N/A
dbSNP	rs112906420	Polymorphism	p.ARG54GLN	N/A
dbSNP	rs115417906	Polymorphism	p.ARG77GLN	N/A
Swiss-Prot	VAR_060972	Polymorphism	p.ARG100GLY	N/A
dbSNP	rs115198947	Polymorphism	p.ARG134LYS	N/A
dbSNP	rs41544215	Polymorphism	p.ARG100THR	N/A
dbSNP	rs184278615	Polymorphism	p.ARG54TRP	N/A
dbSNP	rs1059576	Polymorphism	p.ASN62HIS	N/A
dbSNP	rs114293611	Polymorphism	p.ASN149SER	N/A
Swiss-Prot	VAR_060970	Polymorphism	p.ASP99ARG	N/A
Swiss-Prot	VAR_060958	Polymorphism	p.ASP66ASN	N/A
Swiss-Prot	VAR_060968	Polymorphism	p.ASP99ASN	N/A
Swiss-Prot	VAR_060969	Polymorphism	p.ASP99GLN	N/A
dbSNP	rs41559913	Polymorphism	p.ASP99GLU	N/A
Swiss-Prot	VAR_060956	Polymorphism	p.ASP59GLY	N/A
dbSNP	rs41545413	Polymorphism	p.ASP99GLY	N/A
Swiss-Prot	VAR_060957	Polymorphism	p.ASP59HIS	N/A
dbSNP	rs41547217	Polymorphism	p.ASP99HIS	N/A
dbSNP	rs1136752	Polymorphism	p.ASP40TYR	N/A
dbSNP	rs77853982	Polymorphism	p.ASP66TYR	N/A
dbSNP	rs144532965	Polymorphism	p.ASP86VAL	N/A
dbSNP	rs17433849	Polymorphism	p.GLN38ARG	N/A
dbSNP	rs139485758	Polymorphism	p.GLN178HIS	N/A
dbSNP	rs201056052	Polymorphism	p.GLN39HIS	N/A
dbSNP	rs201948867	Polymorphism	p.GLN39LEU	N/A
dbSNP	rs17405212	Polymorphism	p.GLU43LYS	N/A
Swiss-Prot	VAR_039872	Polymorphism	p.GLY154ALA	N/A
dbSNP	rs76748970	Polymorphism	p.GLY30ARG	N/A
dbSNP	rs41556512	Polymorphism	p.GLY115VAL	N/A
dbSNP	rs112835078	Polymorphism	p.HIS260GLN	N/A
dbSNP	rs202185589	Polymorphism	p.HIS57GLN	N/A
dbSNP	rs200298678	Polymorphism	p.HIS57LEU	N/A
dbSNP	rs142908883	Polymorphism	p.HIS110TYR	N/A
dbSNP	rs200248759	Polymorphism	p.ILE248LEU	N/A
dbSNP	rs72508462	Polymorphism	p.LEU28PHE	N/A
Swiss-Prot	VAR_039871	Polymorphism	p.LEU28SER	N/A
dbSNP	rs78961241	Polymorphism	p.LEU67VAL	N/A
dbSNP	rs116408738	Polymorphism	p.LYS251ARG	N/A
dbSNP	rs75457801	Polymorphism	p.LYS14ASN	N/A
Swiss-Prot	VAR_060952	Polymorphism	p.LYS14GLN	N/A
dbSNP	rs138786370	Polymorphism	p.LYS127GLU	N/A
dbSNP	rs1064587	Polymorphism	p.LYS14MET	N/A
dbSNP	rs200581589	Polymorphism	p.LYS41THR	N/A
Swiss-Prot	VAR_060953	Polymorphism	p.LYS14VAL	N/A
dbSNP	rs142225194	Polymorphism	p.MET12LEU	N/A
dbSNP	rs17211043	Polymorphism	p.MET20THR	N/A
dbSNP	rs201469165	Polymorphism	p.PHE55ILE	N/A
Swiss-Prot	VAR_060964	Polymorphism	p.PHE96ILE	N/A
dbSNP	rs201628145	Polymorphism	p.PHE47LEU	N/A
Swiss-Prot	VAR_060963	Polymorphism	p.PHE96LEU	N/A
dbSNP	rs147440497	Polymorphism	p.PHE55TYR	N/A
dbSNP	rs142204283	Polymorphism	p.PRO212ALA	N/A
dbSNP	rs73727923	Polymorphism	p.PRO25ARG	N/A
dbSNP	rs3200405	Polymorphism	p.SER164GLY	N/A
dbSNP	rs79606458	Polymorphism	p.THR80ARG	N/A
dbSNP	rs115817940	Polymorphism	p.THR106ASN	N/A
Swiss-Prot	VAR_060980	Polymorphism	p.THR186ILE	N/A
dbSNP	rs114041346	Polymorphism	p.THR262LYS	N/A
dbSNP	rs1136633	Polymorphism	p.THR210MET	N/A
dbSNP	rs77180119	Polymorphism	p.THR137PRO	N/A
dbSNP	rs150791953	Polymorphism	p.TYR11ASN	N/A
dbSNP	rs1136757	Polymorphism	p.TYR42HIS	N/A
dbSNP	rs137863146	Polymorphism	p.TYR61HIS	N/A
dbSNP	rs148834340	Polymorphism	p.TYR76PHE	N/A
dbSNP	rs41541218	Polymorphism	p.TYR89SER	N/A
Swiss-Prot	VAR_060976	Polymorphism	p.TYR107VAL	N/A
Swiss-Prot	VAR_060977	Polymorphism	p.VAL114ALA	N/A
Swiss-Prot	VAR_060981	Polymorphism	p.VAL232ILE	N/A
dbSNP	rs112872773	Polymorphism	p.VAL209LEU	N/A
dbSNP	rs77867566	Polymorphism	p.VAL265LEU	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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