Results for the protein: P04440

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IgC_TCR_beta	cd05769	0.00035	122	225
IgC_MHC_I_alpha3	cd07698	4.2e-22	122	216
IgC_MHC_II_alpha	cd05767	5e-17	123	216
IgC_beta2m	cd05770	4.5e-20	123	216
IgC_L	cd07699	1.2e-06	123	217
IgC_MHC_II_beta	cd05766	2.3e-60	124	217
IgC	cd00098	3.9e-31	126	216
IgC_CH2_IgE	cd05847	3.4e-05	126	218
Ig	cd00096	2.6e-07	140	214
MHC_II_beta	pfam00969	1.5e-46	42	114
C1-set	pfam07654	1.7e-43	130	212
IGc1	smart00407	8.3e-32	139	210

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs707958	Polymorphism	p.ALA84ASP	N/A
Swiss-Prot	VAR_060647	Polymorphism	p.ALA84GLU	N/A
dbSNP	rs1042131	Polymorphism	p.ALA85GLU	N/A
Swiss-Prot	VAR_060630	Polymorphism	p.ALA31LEU	N/A
Swiss-Prot	VAR_060640	Polymorphism	p.ALA46PRO	N/A
Swiss-Prot	VAR_060641	Polymorphism	p.ALA46THR	N/A
dbSNP	rs1042121	Polymorphism	p.ALA65VAL	N/A
Swiss-Prot	VAR_059511	Polymorphism	p.ALA84VAL	N/A
dbSNP	rs9276	Polymorphism	p.ARG223GLN	N/A
Swiss-Prot	VAR_060658	Polymorphism	p.ARG120HIS	N/A
Swiss-Prot	VAR_060638	Polymorphism	p.ARG41LEU	N/A
dbSNP	rs1126537	Polymorphism	p.ARG125LYS	N/A
Swiss-Prot	VAR_060629	Polymorphism	p.ARG30PRO	N/A
Swiss-Prot	VAR_060643	Polymorphism	p.ARG61PRO	N/A
Swiss-Prot	VAR_060652	Polymorphism	p.ARG99TRP	N/A
Swiss-Prot	VAR_060649	Polymorphism	p.ASN89HIS	N/A
Swiss-Prot	VAR_060650	Polymorphism	p.ASP93HIS	N/A
Swiss-Prot	VAR_060645	Polymorphism	p.ASP68TYR	N/A
Swiss-Prot	VAR_060639	Polymorphism	p.CYS44GLY	N/A
dbSNP	rs61736936	Polymorphism	p.CYS144TYR	N/A
dbSNP	rs1042133	Polymorphism	p.GLU86ASP	N/A
dbSNP	rs12722018	Polymorphism	p.GLU62GLN	N/A
Swiss-Prot	VAR_060648	Polymorphism	p.GLU86VAL	N/A
Swiss-Prot	VAR_060655	Polymorphism	p.GLY113ASN	N/A
Swiss-Prot	VAR_060657	Polymorphism	p.GLY113ASP	N/A
dbSNP	rs61736935	Polymorphism	p.GLY152ASP	N/A
dbSNP	rs9277354	Polymorphism	p.GLY114GLU	N/A
Swiss-Prot	VAR_060637	Polymorphism	p.GLY40LEU	N/A
Swiss-Prot	VAR_060646	Polymorphism	p.GLY72TRP	N/A
Swiss-Prot	VAR_060656	Polymorphism	p.GLY113VAL	N/A
dbSNP	rs1126513	Polymorphism	p.GLY40VAL	N/A
dbSNP	rs3097675	Polymorphism	p.ILE244ASN	N/A
Swiss-Prot	VAR_060651	Polymorphism	p.ILE94ASN	N/A
dbSNP	rs1042136	Polymorphism	p.ILE94LEU	N/A
Swiss-Prot	VAR_059512	Polymorphism	p.ILE94PHE	N/A
Swiss-Prot	VAR_033448	Polymorphism	p.ILE244THR	N/A
dbSNP	rs1042187	Polymorphism	p.LEU136MET	N/A
dbSNP	rs14362	Polymorphism	p.LEU207MET	N/A
dbSNP	rs1126504	Polymorphism	p.LEU37VAL	N/A
dbSNP	rs12722027	Polymorphism	p.LYS98ARG	N/A
dbSNP	rs1042140	Polymorphism	p.LYS98GLN	N/A
Swiss-Prot	VAR_033440	Polymorphism	p.LYS98GLU	N/A
dbSNP	rs1042153	Polymorphism	p.MET105ILE	N/A
dbSNP	rs1042151	Polymorphism	p.MET105VAL	N/A
dbSNP	rs9277356	Polymorphism	p.MET116VAL	N/A
Swiss-Prot	VAR_060635	Polymorphism	p.PHE38ASP	N/A
Swiss-Prot	VAR_060634	Polymorphism	p.PHE38HIS	N/A
dbSNP	rs12722013	Polymorphism	p.PHE38LEU	N/A
dbSNP	rs9277348	Polymorphism	p.PHE64LEU	N/A
dbSNP	rs1126509	Polymorphism	p.PHE38TYR	N/A
dbSNP	rs1042117	Polymorphism	p.PHE64TYR	N/A
dbSNP	rs9277355	Polymorphism	p.PRO115ALA	N/A
Swiss-Prot	VAR_060632	Polymorphism	p.PRO33ALA	N/A
Swiss-Prot	VAR_060654	Polymorphism	p.PRO102LEU	N/A
dbSNP	rs1042335	Polymorphism	p.THR199ILE	N/A
Swiss-Prot	VAR_060628	Polymorphism	p.THR24ILE	N/A
Swiss-Prot	VAR_060627	Polymorphism	p.THR16MET	N/A
Swiss-Prot	VAR_060631	Polymorphism	p.THR32PRO	N/A
dbSNP	rs61736934	Polymorphism	p.TRP158CYS	N/A
Swiss-Prot	VAR_060642	Polymorphism	p.TYR57ASP	N/A
dbSNP	rs61736938	Polymorphism	p.VAL186GLU	N/A
Swiss-Prot	VAR_060653	Polymorphism	p.VAL101LEU	N/A
dbSNP	rs11551421	Polymorphism	p.VAL234MET	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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