Results for the protein: Q14692

Results for the Protein: Q14692

27151474

9790

BMS1

NCBI, UniProt

BMS1_HUMAN RecName: Full=Ribosome biogenesis protein BMS1 homolog; AltName: Full=Ribosome assembly protein BMS1 homolog

			0 6 0 4 2

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: BMS1 - COG5192 BMS1 - cd01882 GTP_EFTU - pfam00009 AARP2CN - smart00785 AARP2CN - pfam08142 DUF663 - pfam04950	Swiss-Prot Protein: Q14692 Identical to: NP_055568 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BMS1	COG5192	1.8e-286	5	1273
GTP_EFTU	pfam00009	0.00011	80	267
DUF663	pfam04950	4.2e-117	812	1104
AARP2CN	pfam08142	7.9e-45	231	317
AARP2CN	smart00785	2.8e-46	231	317

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs117641896	Polymorphism	p.ALA864THR	N/A
dbSNP	rs2272881	Polymorphism	p.ARG237HIS	N/A
dbSNP	rs787795	Polymorphism	p.LYS652ARG	N/A
Swiss-Prot	VAR_057506	Polymorphism	p.MET884VAL	N/A
Swiss-Prot	VAR_057504	Polymorphism	p.SER552PRO	N/A
dbSNP	rs12764004	Polymorphism	p.VAL1141ILE	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.

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