Results for the protein: P20930

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
S-100Z	cd05026	2.9e-13	1	92
S-100A6	cd05029	8e-05	1	89
S-100	cd00213	4.2e-39	2	89
S-100A13	cd05022	9e-07	2	94
S-100A10	cd05024	0.00073	2	92
calgranulins	cd05030	1.2e-15	2	89
S-100A10_like	cd05031	6.8e-11	2	92
S-100B	cd05027	3.1e-08	2	89
S-100A11	cd05023	3.4e-06	3	89
S_100	pfam01023	2.7e-20	4	47
Filaggrin	pfam03516	8.9e-20	258	306
Filaggrin	pfam03516	6.4e-23	374	428
Filaggrin	pfam03516	5.7e-25	579	630
Filaggrin	pfam03516	4.4e-22	698	753
Filaggrin	pfam03516	4.7e-26	904	955
Filaggrin	pfam03516	1.4e-25	1023	1077
Filaggrin	pfam03516	3.3e-25	1228	1279
Filaggrin	pfam03516	2.1e-21	1347	1401
Filaggrin	pfam03516	1.6e-23	1552	1603
Filaggrin	pfam03516	6.7e-23	1671	1725
Filaggrin	pfam03516	3.2e-25	1876	1927
Filaggrin	pfam03516	2.5e-23	1995	2050
Filaggrin	pfam03516	4.2e-25	2201	2252
Filaggrin	pfam03516	2.3e-24	2320	2374
Filaggrin	pfam03516	5.7e-25	2525	2576
Filaggrin	pfam03516	8.5e-25	2644	2698
Filaggrin	pfam03516	1.7e-25	2849	2900
Filaggrin	pfam03516	8.5e-25	2968	3022
Filaggrin	pfam03516	7.6e-25	3173	3224
Filaggrin	pfam03516	1.1e-26	3292	3346
Filaggrin	pfam03516	6.8e-24	3497	3548
Filaggrin	pfam03516	2.3e-24	3616	3670
Filaggrin	pfam03516	4.5e-21	3821	3872

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs58001094	Polymorphism	p.ALA1167GLY	N/A
Swiss-Prot	VAR_045971	Polymorphism	p.ALA1805VAL	N/A
Swiss-Prot	VAR_059163	Polymorphism	p.ALA2108VAL	N/A
dbSNP	rs75429799	Polymorphism	p.ALA325VAL	N/A
Swiss-Prot	VAR_045970	Polymorphism	p.ARG1437CYS	N/A
dbSNP	rs12405278	Polymorphism	p.ARG1699CYS	N/A
Swiss-Prot	VAR_048479	Polymorphism	p.ARG3490CYS	N/A
Swiss-Prot	VAR_048489	Polymorphism	p.ARG3814CYS	N/A
dbSNP	rs12407748	Polymorphism	p.ARG1891GLN	N/A
Swiss-Prot	VAR_048472	Polymorphism	p.ARG2540GLN	N/A
dbSNP	rs11581433	Polymorphism	p.ARG1376GLY	N/A
dbSNP	rs11586631	Polymorphism	p.ARG1360HIS	N/A
dbSNP	rs12407807	Polymorphism	p.ARG1684HIS	N/A
Swiss-Prot	VAR_059170	Polymorphism	p.ARG3564HIS	N/A
dbSNP	rs77422831	Polymorphism	p.ARG3738HIS	N/A
dbSNP	rs72697000	Polymorphism	p.ARG3530SER	N/A
dbSNP	rs199559803	Polymorphism	p.ASN2695SER	N/A
dbSNP	rs199854301	Polymorphism	p.ASN3019SER	N/A
dbSNP	rs3120651	Polymorphism	p.ASN969THR	N/A
dbSNP	rs3120652	Polymorphism	p.ASN969TYR	N/A
Swiss-Prot	VAR_048481	Polymorphism	p.ASP3584ASN	N/A
Swiss-Prot	VAR_048491	Polymorphism	p.ASP3908ASN	N/A
dbSNP	rs3120653	Polymorphism	p.ASP836GLU	N/A
Swiss-Prot	VAR_048473	Polymorphism	p.ASP2781TYR	N/A
dbSNP	rs34806697	Polymorphism	p.GLN1914ARG	N/A
Swiss-Prot	VAR_048480	Polymorphism	p.GLN3512ARG	N/A
dbSNP	rs74129452	Polymorphism	p.GLN2154HIS	N/A
Swiss-Prot	VAR_059171	Polymorphism	p.GLU3593ASP	N/A
dbSNP	rs71625201	Polymorphism	p.GLU2398GLN	N/A
dbSNP	rs55707024	Polymorphism	p.GLU3694GLN	N/A
dbSNP	rs74129461	Polymorphism	p.GLU755LYS	N/A
Swiss-Prot	VAR_033931	Polymorphism	p.GLY3436ALA	N/A
Swiss-Prot	VAR_048487	Polymorphism	p.GLY3760ALA	N/A
dbSNP	rs3126072	Polymorphism	p.GLY2545ARG	N/A
Swiss-Prot	VAR_061050	Polymorphism	p.GLY444ARG	N/A
dbSNP	rs74129463	Polymorphism	p.GLY610ARG	N/A
dbSNP	rs76955400	Polymorphism	p.GLY441GLU	N/A
Swiss-Prot	VAR_048490	Polymorphism	p.GLY3827TRP	N/A
Swiss-Prot	VAR_061049	Polymorphism	p.GLY332VAL	N/A
dbSNP	rs78974621	Polymorphism	p.HIS2209ARG	N/A
Swiss-Prot	VAR_059161	Polymorphism	p.HIS1816GLN	N/A
Swiss-Prot	VAR_045972	Polymorphism	p.HIS1961GLN	N/A
Swiss-Prot	VAR_045974	Polymorphism	p.HIS2507GLN	N/A
Swiss-Prot	VAR_048478	Polymorphism	p.HIS3437GLN	N/A
Swiss-Prot	VAR_048488	Polymorphism	p.HIS3761GLN	N/A
Swiss-Prot	VAR_048476	Polymorphism	p.HIS3415TYR	N/A
Swiss-Prot	VAR_059172	Polymorphism	p.HIS3630TYR	N/A
Swiss-Prot	VAR_048485	Polymorphism	p.HIS3739TYR	N/A
Swiss-Prot	VAR_045973	Polymorphism	p.ILE2022THR	N/A
dbSNP	rs55650366	Polymorphism	p.LEU2481SER	N/A
dbSNP	rs71625200	Polymorphism	p.LYS2444GLU	N/A
Swiss-Prot	VAR_059156	Polymorphism	p.PRO478SER	N/A
dbSNP	rs11582087	Polymorphism	p.SER2836ARG	N/A
Swiss-Prot	VAR_045968	Polymorphism	p.SER1184LEU	N/A
dbSNP	rs80152591	Polymorphism	p.SER2208LEU	N/A
Swiss-Prot	VAR_048493	Polymorphism	p.SER3970LEU	N/A
Swiss-Prot	VAR_059160	Polymorphism	p.SER1750PHE	N/A
Swiss-Prot	VAR_048474	Polymorphism	p.SER3371PHE	N/A
Swiss-Prot	VAR_048482	Polymorphism	p.SER3695PHE	N/A
dbSNP	rs77032592	Polymorphism	p.SER787PHE	N/A
Swiss-Prot	VAR_048475	Polymorphism	p.SER3396PRO	N/A
Swiss-Prot	VAR_048484	Polymorphism	p.SER3720PRO	N/A
Swiss-Prot	VAR_048492	Polymorphism	p.SER3935PRO	N/A
dbSNP	rs74129464	Polymorphism	p.SER535PRO	N/A
dbSNP	rs71625202	Polymorphism	p.SER2366THR	N/A
dbSNP	rs139284720	Polymorphism	p.SER3662THR	N/A
Swiss-Prot	VAR_059158	Polymorphism	p.SER1482TYR	N/A
Swiss-Prot	VAR_048477	Polymorphism	p.SER3427TYR	N/A
Swiss-Prot	VAR_048486	Polymorphism	p.SER3751TYR	N/A
Swiss-Prot	VAR_061051	Polymorphism	p.SER742TYR	N/A
Swiss-Prot	VAR_048483	Polymorphism	p.THR3696ALA	N/A
Swiss-Prot	VAR_059155	Polymorphism	p.THR454ALA	N/A
dbSNP	rs3120648	Polymorphism	p.THR1488ASN	N/A
Swiss-Prot	VAR_059157	Polymorphism	p.THR725ILE	N/A
dbSNP	rs76330665	Polymorphism	p.THR4030LYS	N/A
dbSNP	rs80059102	Polymorphism	p.TRP1947GLY	N/A
Swiss-Prot	VAR_059169	Polymorphism	p.TRP3503GLY	N/A
Swiss-Prot	VAR_059167	Polymorphism	p.TYR3105ASP	N/A
dbSNP	rs74129458	Polymorphism	p.TYR1829CYS	N/A
Swiss-Prot	VAR_059164	Polymorphism	p.TYR2119HIS	N/A
dbSNP	rs2184953	Polymorphism	p.TYR2194HIS	N/A
Swiss-Prot	VAR_059168	Polymorphism	p.VAL3179GLY	N/A
OMIM	135940.0001	Disease	p.ARG501TER	ICHTHYOSIS VULGARIS\|\|DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO, INCLUDED
OMIM	135940.0003	Disease	p.SER2554TER	ICHTHYOSIS VULGARIS\|\|DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO, INCLUDED

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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