Results for the protein: P01266

Results for the Protein: P01266

126302607

7038

TG

NCBI, UniProt

THYG_HUMAN RecName: Full=Thyroglobulin; Short=Tg; Flags: Precursor

Known Diseases associated with this Protein:
  AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  THYROID DYSHORMONOGENESIS 3
  THYROID DYSHORMONOGENESIS 3 (TDH3)

20

45

13

21

31

Tips:

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Default View: TY - cd00191 Thyroglobulin_1 - pfam00086 TY - smart00211 GCC2_GCC3 - pfam07699 COesterase - pfam00135 PnbA - COG2272 Esterase_lipase - cd00312	Swiss-Prot Protein: P01266 Identical to: NP_003226 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TY	cd00191	9.9e-24	95	160
TY	cd00191	5.2e-25	300	358
TY	cd00191	1.2e-19	607	658
TY	cd00191	1.4e-23	661	726
TY	cd00191	1.9e-23	1004	1073
TY	cd00191	1.5e-10	1076	1145
TY	cd00191	4.3e-22	1148	1210
Esterase_lipase	cd00312	3e-63	2215	2710
Thyroglobulin_1	pfam00086	1.9e-19	34	92
Thyroglobulin_1	pfam00086	4.8e-30	96	160
Thyroglobulin_1	pfam00086	1.2e-27	301	358
Thyroglobulin_1	pfam00086	8.6e-23	608	658
Thyroglobulin_1	pfam00086	2.3e-25	662	726
Thyroglobulin_1	pfam00086	1.6e-10	1006	1073
Thyroglobulin_1	pfam00086	2.6e-05	1077	1145
Thyroglobulin_1	pfam00086	3.4e-20	1149	1210
COesterase	pfam00135	5.4e-155	2194	2718
PnbA	COG2272	3.4e-34	2205	2703
TY	smart00211	4.1e-17	49	94
TY	smart00211	1.9e-17	117	162
TY	smart00211	1.9e-17	316	360
TY	smart00211	1.3e-14	617	660
TY	smart00211	4.5e-18	684	728
TY	smart00211	3.7e-05	879	923
TY	smart00211	1.9e-18	1028	1075
TY	smart00211	1.2e-09	1105	1147
TY	smart00211	4.6e-19	1166	1212
GCC2_GCC3	pfam07699	8.7e-18	1465	1510
TY	smart00211	1.5e-12	1520	1567

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063036	Disease	p.ALA2234ASP	Thyroid dyshormonogenesis 3 (TDH3)
Swiss-Prot	VAR_016859	Polymorphism	p.ALA1936THR	N/A
dbSNP	rs73354644	Polymorphism	p.ALA2422THR	N/A
Swiss-Prot	VAR_063037	Disease	p.ARG2336GLN	Thyroid dyshormonogenesis 3 (TDH3)
dbSNP	rs1133076	Polymorphism	p.ARG2530GLN	N/A
Swiss-Prot	VAR_016863	Polymorphism	p.ARG2242HIS	N/A
Swiss-Prot	VAR_049083	Polymorphism	p.ARG2455HIS	N/A
dbSNP	rs16893332	Polymorphism	p.ARG988HIS	N/A
Swiss-Prot	VAR_049079	Polymorphism	p.ARG988PRO	N/A
Swiss-Prot	VAR_032013	Polymorphism	p.ARG1979TRP	N/A
Swiss-Prot	VAR_010220	Polymorphism	p.ARG1999TRP	N/A
dbSNP	rs10091530	Polymorphism	p.ASN2616SER	N/A
dbSNP	rs61744749	Polymorphism	p.ASP1729ALA	N/A
Swiss-Prot	VAR_010218	Polymorphism	p.ASP1838ASN	N/A
Swiss-Prot	VAR_016860	Polymorphism	p.ASP2091GLU	N/A
dbSNP	rs75865560	Polymorphism	p.ASP1312GLY	N/A
dbSNP	rs61743198	Polymorphism	p.ASP2091GLY	N/A
Swiss-Prot	VAR_010216	Disease	p.CYS1264ARG	Thyroid dyshormonogenesis 3 (TDH3)
Swiss-Prot	VAR_010219	Disease	p.CYS1996SER	Thyroid dyshormonogenesis 3 (TDH3)
Swiss-Prot	VAR_063034	Disease	p.CYS183TYR	Thyroid dyshormonogenesis 3 (TDH3)
Swiss-Prot	VAR_063035	Disease	p.CYS1897TYR	Thyroid dyshormonogenesis 3 (TDH3)
Swiss-Prot	VAR_016862	Polymorphism	p.GLN2170ARG	N/A
dbSNP	rs180222	Polymorphism	p.GLN515GLU	N/A
Swiss-Prot	VAR_010214	Polymorphism	p.GLN830GLU	N/A
Swiss-Prot	VAR_010212	Polymorphism	p.GLN135HIS	N/A
dbSNP	rs61740824	Polymorphism	p.GLN2148HIS	N/A
dbSNP	rs2229843	Polymorphism	p.GLN870HIS	N/A
Swiss-Prot	VAR_063038	Disease	p.GLY2375ARG	Thyroid dyshormonogenesis 3 (TDH3)
dbSNP	rs16904774	Polymorphism	p.GLY815ARG	N/A
Swiss-Prot	VAR_016853	Polymorphism	p.GLY653ASP	N/A
Swiss-Prot	VAR_016855	Polymorphism	p.HIS1043TYR	N/A
dbSNP	rs73710715	Polymorphism	p.ILE1790MET	N/A
Swiss-Prot	VAR_016856	Polymorphism	p.ILE1059THR	N/A
dbSNP	rs61744679	Polymorphism	p.ILE1708VAL	N/A
Swiss-Prot	VAR_049080	Polymorphism	p.LEU1063MET	N/A
Swiss-Prot	VAR_049084	Polymorphism	p.LEU2469PRO	N/A
Swiss-Prot	VAR_061173	Polymorphism	p.MET1974THR	N/A
dbSNP	rs853326	Polymorphism	p.MET1028VAL	N/A
dbSNP	rs12114109	Polymorphism	p.PHE2526LEU	N/A
Swiss-Prot	VAR_016858	Polymorphism	p.PRO1463HIS	N/A
Swiss-Prot	VAR_016861	Polymorphism	p.PRO2149LEU	N/A
Swiss-Prot	VAR_049077	Polymorphism	p.PRO777LEU	N/A
dbSNP	rs61744678	Polymorphism	p.PRO1707SER	N/A
dbSNP	rs180223	Polymorphism	p.SER734ALA	N/A
Swiss-Prot	VAR_016852	Polymorphism	p.SER604ASP	N/A
Swiss-Prot	VAR_049081	Polymorphism	p.SER1222LEU	N/A
dbSNP	rs61741457	Polymorphism	p.SER2132LEU	N/A
Swiss-Prot	VAR_049082	Polymorphism	p.THR1740LYS	N/A
dbSNP	rs74590117	Polymorphism	p.THR1498MET	N/A
Swiss-Prot	VAR_016857	Polymorphism	p.TRP1437ARG	N/A
dbSNP	rs56541861	Polymorphism	p.TRP2501ARG	N/A
dbSNP	rs61730222	Polymorphism	p.VAL2472LEU	N/A
OMIM	188450.0017	Disease	p.ARG2336GLN	THYROID DYSHORMONOGENESIS 3
OMIM	188450.0012	Disease	p.ARG2223HIS	THYROID DYSHORMONOGENESIS 3
OMIM	188450.0003	Disease	p.ARG1511TER	THYROID DYSHORMONOGENESIS 3
OMIM	188450.0007	Disease	p.ARG277TER	THYROID DYSHORMONOGENESIS 3
OMIM	188450.0008	Disease	p.ARG1980TRP	AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
OMIM	188450.0014	Disease	p.CYS1058ARG	THYROID DYSHORMONOGENESIS 3
OMIM	188450.0005	Disease	p.CYS1245ARG	THYROID DYSHORMONOGENESIS 3
OMIM	188450.0006	Disease	p.CYS1977SER	THYROID DYSHORMONOGENESIS 3
OMIM	188450.0016	Disease	p.CYS1897TYR	THYROID DYSHORMONOGENESIS 3
OMIM	188450.0002	Disease	p.GLN870HIS	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	188450.0015	Disease	p.GLY2356ARG	THYROID DYSHORMONOGENESIS 3
OMIM	188450.0010	Disease	p.MET1027VAL	AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
OMIM	188450.0009	Disease	p.SER734ALA	AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3

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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