Results for the protein: Q9H4L7

Results for the Protein: Q9H4L7

306526240

56916

SMARCAD1

NCBI, UniProt

SMRCD_HUMAN RecName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1; AltName: Full=ATP-dependent helicase 1; Short=hHEL1

			0 8 0 2 6

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Default View: HepA - COG0553 DEXDc - smart00487 SNF2_N - pfam00176 DEXDc - cd00046 HELICc - cd00079 HELICc - smart00490 Helicase_C - pfam00271	Swiss-Prot Protein: Q9H4L7 Identical to: NP_064544 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DEXDc	cd00046	1e-25	516	659
HELICc	cd00079	6.3e-23	844	975
SNF2_N	pfam00176	7.7e-99	500	786
Helicase_C	pfam00271	1.7e-23	888	967
DEXDc	smart00487	2.6e-34	489	687
HELICc	smart00490	1.5e-22	884	967

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_028039	Polymorphism	p.ARG140CYS	N/A
Swiss-Prot	VAR_028038	Polymorphism	p.LEU135PHE	N/A
Swiss-Prot	VAR_028043	Polymorphism	p.PRO351GLN	N/A
dbSNP	rs11722476	Polymorphism	p.SER247ASN	N/A
Swiss-Prot	VAR_028037	Polymorphism	p.SER66PHE	N/A
Swiss-Prot	VAR_028040	Polymorphism	p.SER245TYR	N/A
dbSNP	rs7439869	Polymorphism	p.VAL301ALA	N/A
Swiss-Prot	VAR_028044	Polymorphism	p.VAL972ALA	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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