Results for the protein: Q99973

Results for the Protein: Q99973

215273899

7011

TEP1

NCBI, UniProt

TEP1_HUMAN RecName: Full=Telomerase protein component 1; AltName: Full=Telomerase-associated protein 1; Short=Telomerase protein 1; AltName: Full=p240; AltName: Full=p80 telomerase homolog

			0 26 0 12 14

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Default View: TEP1_N - pfam05386 TROVE - pfam05731 NACHT - pfam05729 COG2319 - COG2319 WD40 - cd00200 WD40 - smart00320 WD40 - pfam00400	Swiss-Prot Protein: Q99973 Identical to: NP_009041 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
WD40	cd00200	9.2e-63	1959	2266
COG2319	COG2319	4.3e-18	1507	1993
WD40	pfam00400	3.4e-06	1749	1787
WD40	pfam00400	1.9e-05	1874	1912
COG2319	COG2319	1.4e-28	1997	2488
WD40	pfam00400	2.9e-10	2051	2089
WD40	pfam00400	7.8e-05	2097	2134
WD40	pfam00400	8e-08	2138	2174
WD40	pfam00400	1.9e-07	2228	2266
WD40	pfam00400	0.00013	2545	2581
TEP1_N	pfam05386	1.4e-16	1	30
TEP1_N	pfam05386	2e-14	31	60
TEP1_N	pfam05386	3.4e-14	61	90
TEP1_N	pfam05386	1.1e-13	91	120
TROVE	pfam05731	1.1e-245	223	676
NACHT	pfam05729	3.2e-57	1162	1337
WD40	smart00320	1.6e-05	1746	1787
WD40	smart00320	0.00018	1873	1912
WD40	smart00320	9.2e-11	2050	2089
WD40	smart00320	8.5e-08	2095	2134
WD40	smart00320	2.6e-05	2137	2174
WD40	smart00320	1.2e-06	2227	2266

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_047635	Polymorphism	p.ALA553GLY	N/A
Swiss-Prot	VAR_047642	Polymorphism	p.ALA2310SER	N/A
Swiss-Prot	VAR_018492	Polymorphism	p.ARG1055CYS	N/A
Swiss-Prot	VAR_047637	Polymorphism	p.ARG1155GLN	N/A
Swiss-Prot	VAR_047638	Polymorphism	p.ARG1351GLN	N/A
Swiss-Prot	VAR_047640	Polymorphism	p.ARG1661GLN	N/A
Swiss-Prot	VAR_047641	Polymorphism	p.ARG1772GLN	N/A
Swiss-Prot	VAR_047636	Polymorphism	p.ARG933HIS	N/A
dbSNP	rs73585176	Polymorphism	p.ARG1646TRP	N/A
Swiss-Prot	VAR_018491	Polymorphism	p.ASN307LYS	N/A
Swiss-Prot	VAR_018495	Polymorphism	p.CYS1468TYR	N/A
dbSNP	rs74369960	Polymorphism	p.GLU1253GLY	N/A
Swiss-Prot	VAR_047639	Polymorphism	p.GLY1408ARG	N/A
dbSNP	rs35517499	Polymorphism	p.GLY1780ARG	N/A
dbSNP	rs61734876	Polymorphism	p.HIS239ARG	N/A
dbSNP	rs2104978	Polymorphism	p.HIS2562ARG	N/A
dbSNP	rs938886	Polymorphism	p.ILE2486MET	N/A
dbSNP	rs2228035	Polymorphism	p.LYS368ARG	N/A
dbSNP	rs17111188	Polymorphism	p.LYS434ASN	N/A
dbSNP	rs35165628	Polymorphism	p.SER2149ASN	N/A
dbSNP	rs4982051	Polymorphism	p.SER510LEU	N/A
dbSNP	rs1760897	Polymorphism	p.SER116PRO	N/A
dbSNP	rs1760904	Polymorphism	p.SER1195PRO	N/A
Swiss-Prot	VAR_018494	Polymorphism	p.SER1447THR	N/A
Swiss-Prot	VAR_047631	Polymorphism	p.THR137MET	N/A
Swiss-Prot	VAR_018496	Polymorphism	p.VAL2214ILE	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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