Results for the protein: Q9NZ71

Results for the Protein: Q9NZ71

229462743

51750

RTEL1

NCBI, UniProt

RTEL1_HUMAN RecName: Full=Regulator of telomere elongation helicase 1; AltName: Full=Novel helicase-like

Known Diseases associated with this Protein:
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 4 (DKCA4)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 5 (DKCB5)

11

10

0

3

18

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: DinG - COG1199 DEXDc2 - smart00488 - smart00489 DEAD_2 - pfam06733 - smart00492 HELICc2 - smart00491	Swiss-Prot Protein: Q9NZ71 Identical to: NP_057518 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
	smart00489	3.3e-62	9	291
DEXDc2	smart00488	3.3e-62	9	291
DEAD_2	pfam06733	4.2e-85	111	272
HELICc2	smart00491	2.1e-73	563	717
	smart00492	1.1e-19	563	717

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069730	Polymorphism	p.ALA1059THR	N/A
Swiss-Prot	VAR_069717	Disease	p.ALA621THR	Dyskeratosis congenita, autosomal dominant, 4 (DKCA4)
Swiss-Prot	VAR_069726	Polymorphism	p.ALA929THR	N/A
Swiss-Prot	VAR_069718	Polymorphism	p.ARG684GLN	N/A
Swiss-Prot	VAR_069727	Disease	p.ARG957TRP	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
dbSNP	rs3848668	Polymorphism	p.ASN124SER	N/A
dbSNP	rs61753459	Polymorphism	p.ASP704GLU	N/A
Swiss-Prot	VAR_054971	Polymorphism	p.GLN1042HIS	N/A
Swiss-Prot	VAR_069723	Polymorphism	p.GLN829PRO	N/A
Swiss-Prot	VAR_069716	Disease	p.GLU591ASP	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
dbSNP	rs61736614	Polymorphism	p.GLU941ASP	N/A
Swiss-Prot	VAR_069714	Disease	p.GLU251LYS	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-Prot	VAR_069724	Polymorphism	p.GLY849ASP	N/A
Swiss-Prot	VAR_069721	Disease	p.GLY739VAL	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-Prot	VAR_069719	Disease	p.ILE699MET	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-Prot	VAR_069720	Disease	p.LEU710ARG	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-Prot	VAR_069725	Disease	p.LYS897GLU	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-Prot	VAR_069715	Disease	p.MET492ILE	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-Prot	VAR_069728	Disease	p.PHE964LEU	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)
Swiss-Prot	VAR_069729	Polymorphism	p.PRO1034HIS	N/A
Swiss-Prot	VAR_069722	Disease	p.VAL745MET	Dyskeratosis congenita, autosomal recessive, 5 (DKCB5)

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258