Results for the protein: Q9NW13

Results for the Protein: Q9NW13

55976611

55131

RBM28

NCBI, UniProt

RBM28_HUMAN RecName: Full=RNA-binding protein 28; AltName: Full=RNA-binding motif protein 28

Known Diseases associated with this Protein:
ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME
ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (ANES)

2

3

1

3

1

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Default View: - smart00362 COG0724 - COG0724 RRM_SF - cd00590 RRM_1 - pfam00076 RRM - smart00360	Swiss-Prot Protein: Q9NW13 Identical to: NP_060547 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG0724	COG0724	3.7e-14	5	322
RRM_SF	cd00590	3e-26	115	188
RRM_SF	cd00590	9.7e-21	336	416
RRM_SF	cd00590	2.2e-10	488	577
RRM_1	pfam00076	2.7e-16	6	74
RRM_1	pfam00076	2.2e-20	116	185
RRM_1	pfam00076	3.5e-12	337	413
	smart00362	2.9e-18	5	76
RRM	smart00360	1.8e-18	8	76
	smart00362	2.5e-22	115	187
RRM	smart00360	1.2e-23	118	187
	smart00362	4.4e-19	336	415
RRM	smart00360	1.5e-19	339	415
RRM	smart00360	2.9e-06	491	576

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61733108	Polymorphism	p.ASN94THR	N/A
dbSNP	rs11554671	Polymorphism	p.GLU253GLN	N/A
Swiss-Prot	VAR_045655	Disease	p.LEU351PRO	Alopecia, neurologic defects, and endocrinopathy syndrome (ANES)
dbSNP	rs61733109	Polymorphism	p.VAL319ILE	N/A
OMIM	612074.0001	Disease	p.LEU351PRO	ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME

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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