Results for the protein: Q9NZC9

Results for the Protein: Q9NZC9

60390962

50485

SMARCAL1

NCBI, UniProt

SMAL1_HUMAN RecName: Full=SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1; AltName: Full=HepA-related protein; Short=hHARP; AltName: Full=Sucrose nonfermenting protein 2-like 1

Known Diseases associated with this Protein:
SCHIMKE IMMUNO-OSSEOUS DYSPLASIA (SIOD)
SCHIMKE IMMUNOOSSEOUS DYSPLASIA

18

11

7

4

18

Tips:

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

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

Default View: HepA - COG0553 HARP - pfam07443 DEXDc - smart00487 SNF2_N - pfam00176 DEXDc - cd00046 HELICc - cd00079 HELICc - smart00490 Helicase_C - pfam00271	Swiss-Prot Protein: Q9NZC9 Identical to: NP_001120679, NP_054859 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DEXDc	cd00046	3.4e-07	452	582
HELICc	cd00079	2.4e-12	697	831
SNF2_N	pfam00176	1.1e-07	439	712
Helicase_C	pfam00271	1.2e-19	743	822
HARP	pfam07443	5.4e-36	248	302
HARP	pfam07443	6.7e-30	343	397
DEXDc	smart00487	2.1e-16	428	608
HELICc	smart00490	7.2e-18	739	822

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_038370	Polymorphism	p.ALA22GLY	N/A
Swiss-Prot	VAR_021370	Disease	p.ALA468PRO	Schimke immuno-osseous dysplasia (SIOD)
dbSNP	rs2066524	Polymorphism	p.ALA43THR	N/A
Swiss-Prot	VAR_021375	Disease	p.ARG645CYS	Schimke immuno-osseous dysplasia (SIOD)
Swiss-Prot	VAR_021381	Disease	p.ARG764GLN	Schimke immuno-osseous dysplasia (SIOD)
dbSNP	rs11555797	Polymorphism	p.ARG114HIS	N/A
Swiss-Prot	VAR_021382	Disease	p.ARG820HIS	Schimke immuno-osseous dysplasia (SIOD)
Swiss-Prot	VAR_021373	Disease	p.ARG586TRP	Schimke immuno-osseous dysplasia (SIOD)
Swiss-Prot	VAR_021374	Disease	p.ARG644TRP	Schimke immuno-osseous dysplasia (SIOD)
Swiss-Prot	VAR_021378	Polymorphism	p.ASP649ASN	N/A
Swiss-Prot	VAR_021369	Polymorphism	p.ASP424VAL	N/A
dbSNP	rs2066518	Polymorphism	p.GLU377GLN	N/A
Swiss-Prot	VAR_021371	Disease	p.ILE548ASN	Schimke immuno-osseous dysplasia (SIOD)
Swiss-Prot	VAR_021366	Polymorphism	p.ILE207PHE	N/A
Swiss-Prot	VAR_036026	Polymorphism	p.LEU432VAL	N/A
Swiss-Prot	VAR_021376	Disease	p.LYS647GLN	Schimke immuno-osseous dysplasia (SIOD)
Swiss-Prot	VAR_021377	Disease	p.LYS647THR	Schimke immuno-osseous dysplasia (SIOD)
dbSNP	rs2066522	Polymorphism	p.SER315ARG	N/A
Swiss-Prot	VAR_021372	Disease	p.SER579LEU	Schimke immuno-osseous dysplasia (SIOD)
Swiss-Prot	VAR_021379	Disease	p.THR705ILE	Schimke immuno-osseous dysplasia (SIOD)
Swiss-Prot	VAR_021380	Polymorphism	p.THR742MET	N/A
Swiss-Prot	VAR_021365	Polymorphism	p.TYR206ASP	N/A
OMIM	606622.0005	Disease	p.ARG645CYS	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
OMIM	606622.0008	Disease	p.ARG764GLN	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
OMIM	606622.0002	Disease	p.ARG17TER	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
OMIM	606622.0006	Disease	p.ARG586TRP	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
OMIM	606622.0003	Disease	p.GLN34TER	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
OMIM	606622.0001	Disease	p.GLU848TER	SCHIMKE IMMUNOOSSEOUS DYSPLASIA
OMIM	606622.0004	Disease	p.ILE548ASN	SCHIMKE IMMUNOOSSEOUS DYSPLASIA

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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