Results for the protein: O14746

Results for the Protein: O14746

6226780

7015

TERT

NCBI, UniProt

TERT_HUMAN RecName: Full=Telomerase reverse transcriptase; AltName: Full=HEST2; AltName: Full=Telomerase catalytic subunit; AltName: Full=Telomerase-associated protein 2; Short=TP2

Known Diseases associated with this Protein:
  BONE MARROW FAILURE, TELOMERE-RELATED, 1
  DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2
  DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2 (DKCA2)
  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 (DKCB4)
  DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4, INCLUDED
  LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
  PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
  PULMONARY FIBROSIS, AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1 (PFBMFT1)
  PULMONARY FIBROSIS, TELOMERE-RELATED, 1

40

13

19

0

34

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Default View: Telomerase_RBD - pfam12009 RT_nLTR_like - cd01650 TERT - cd01648	Swiss-Prot Protein: O14746 Identical to: NP_937983 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TERT	cd01648	1.5e-86	711	936
Telomerase_RBD	pfam12009	2.4e-64	459	594

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025150	Polymorphism	p.ALA1062THR	N/A
Swiss-Prot	VAR_036863	Disease	p.ALA202THR	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_036864	Polymorphism	p.ALA279THR	N/A
Swiss-Prot	VAR_068794	Disease	p.ALA716THR	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_062540	Disease	p.ARG811CYS	Dyskeratosis congenita, autosomal recessive, 4 (DKCB4)
Swiss-Prot	VAR_062783	Polymorphism	p.ARG631GLN	N/A
Swiss-Prot	VAR_036868	Disease	p.ARG865HIS	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_062782	Polymorphism	p.ARG522LYS	N/A
Swiss-Prot	VAR_062541	Disease	p.ARG901TRP	Dyskeratosis congenita, autosomal recessive, 4 (DKCB4)
Swiss-Prot	VAR_062542	Disease	p.ARG979TRP	Dyskeratosis congenita, autosomal dominant, 2 (DKCA2)
Swiss-Prot	VAR_062537	Polymorphism	p.GLY682ASP	N/A
Swiss-Prot	VAR_025149	Disease	p.HIS412TYR	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_062535	Polymorphism	p.LEU55GLN	N/A
Swiss-Prot	VAR_068796	Disease	p.LEU841PHE	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_068798	Disease	p.LYS902ARG	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_062536	Polymorphism	p.LYS570ASN	N/A
Swiss-Prot	VAR_036869	Disease	p.LYS902ASN	Dyskeratosis congenita, autosomal dominant, 2 (DKCA2)
Swiss-Prot	VAR_062544	Disease	p.PHE1127LEU	Dyskeratosis congenita, autosomal dominant, 2 (DKCA2)
Swiss-Prot	VAR_062780	Polymorphism	p.PRO65ALA	N/A
Swiss-Prot	VAR_062538	Disease	p.PRO721ARG	Dyskeratosis congenita, autosomal recessive, 4 (DKCB4)
Swiss-Prot	VAR_062784	Polymorphism	p.PRO785LEU	N/A
Swiss-Prot	VAR_068799	Disease	p.PRO923LEU	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_068793	Disease	p.PRO704SER	Dyskeratosis congenita, autosomal recessive, 4 (DKCB4)
Swiss-Prot	VAR_053726	Polymorphism	p.SER948ARG	N/A
Swiss-Prot	VAR_062543	Polymorphism	p.THR1110MET	N/A
Swiss-Prot	VAR_062539	Polymorphism	p.THR726MET	N/A
Swiss-Prot	VAR_036867	Disease	p.TYR772CYS	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_068795	Disease	p.VAL791ILE	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_036870	Disease	p.VAL1090MET	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_068792	Disease	p.VAL170MET	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_062781	Polymorphism	p.VAL299MET	N/A
Swiss-Prot	VAR_036866	Disease	p.VAL694MET	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_068797	Disease	p.VAL867MET	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
Swiss-Prot	VAR_068800	Disease	p.VAL1025PHE	Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 1 (PFBMFT1)
OMIM	187270.0022	Disease	p.ALA1062THR	LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
OMIM	187270.0001	Disease	p.ALA202THR	BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM	187270.0019	Disease	p.ALA716THR	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM	187270.0012	Disease	p.ARG811CYS	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
OMIM	187270.0011	Disease	p.ARG631GLN	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2
OMIM	187270.0008	Disease	p.ARG865HIS	PULMONARY FIBROSIS, TELOMERE-RELATED, 1
OMIM	187270.0013	Disease	p.ARG901TRP	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
OMIM	187270.0002	Disease	p.HIS412TYR	BONE MARROW FAILURE, TELOMERE-RELATED, 1\|\|DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4, INCLUDED
OMIM	187270.0015	Disease	p.LEU55GLN	PULMONARY FIBROSIS, TELOMERE-RELATED, 1
OMIM	187270.0020	Disease	p.LYS902ARG	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM	187270.0007	Disease	p.LYS902ASN	DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2
OMIM	187270.0021	Disease	p.PRO923LEU	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM	187270.0014	Disease	p.PRO704SER	DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
OMIM	187270.0004	Disease	p.TYR772CYS	BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM	187270.0017	Disease	p.VAL791ILE	PULMONARY FIBROSIS, TELOMERE-RELATED, 1
OMIM	187270.0005	Disease	p.VAL1090MET	BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM	187270.0018	Disease	p.VAL170MET	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM	187270.0003	Disease	p.VAL694MET	BONE MARROW FAILURE, TELOMERE-RELATED, 1
OMIM	187270.0017	Disease	p.VAL867MET	PULMONARY FIBROSIS, TELOMERE-RELATED, 1

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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