Results for the protein: P54132

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SrmB	COG0513	1.8e-06	628	1153
RecQ	COG0514	2.6e-183	652	1288
DEXDc	cd00046	1.4e-21	683	833
HELICc	cd00079	4.3e-38	861	992
DEAD	pfam00270	4.3e-38	669	841
Helicase_C	pfam00271	2.9e-25	906	984
HRDC	pfam00570	3.2e-12	1215	1282
BDHCT	pfam08072	2.9e-29	371	411
DEXDc	smart00487	4.4e-27	660	865
HELICc	smart00490	1.7e-25	902	984
RQC	pfam09382	1.8e-15	1076	1181
HRDC	smart00341	5.7e-24	1212	1292

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_051731	Polymorphism	p.ALA1043ASP	N/A
Swiss-Prot	VAR_022297	Polymorphism	p.ARG591GLN	N/A
Swiss-Prot	VAR_016033	Disease	p.CYS878ARG	Bloom syndrome (BLM)
Swiss-Prot	VAR_009140	Disease	p.CYS1036PHE	Bloom syndrome (BLM)
Swiss-Prot	VAR_006903	Disease	p.CYS1055SER	Bloom syndrome (BLM)
Swiss-Prot	VAR_009139	Disease	p.CYS901TYR	Bloom syndrome (BLM)
Swiss-Prot	VAR_006901	Disease	p.GLN672ARG	Bloom syndrome (BLM)
Swiss-Prot	VAR_022300	Polymorphism	p.GLU1213LYS	N/A
Swiss-Prot	VAR_009138	Disease	p.GLY891GLU	Bloom syndrome (BLM)
Swiss-Prot	VAR_016032	Disease	p.ILE841THR	Bloom syndrome (BLM)
Swiss-Prot	VAR_022295	Polymorphism	p.LYS137ARG	N/A
dbSNP	rs11852361	Polymorphism	p.PRO868LEU	N/A
Swiss-Prot	VAR_014912	Polymorphism	p.SER1209THR	N/A
Swiss-Prot	VAR_006902	Disease	p.THR843ILE	Bloom syndrome (BLM)
dbSNP	rs28384991	Polymorphism	p.THR298MET	N/A
Swiss-Prot	VAR_022299	Polymorphism	p.VAL1205ILE	N/A
dbSNP	rs7167216	Polymorphism	p.VAL1321ILE	N/A

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