Results for the protein: Q13702

Results for the Protein: Q13702

145559521

5913

RAPSN

NCBI, UniProt

RAPSN_HUMAN RecName: Full=43 kDa receptor-associated protein of the synapse; Short=RAPsyn; AltName: Full=43 kDa postsynaptic protein; AltName: Full=Acetylcholine receptor-associated 43 kDa protein; AltName: Full=RING finger protein 205

Known Diseases associated with this Protein:
  DEFICIENCY
  FETAL AKINESIA DEFORMATION SEQUENCE
  FETAL AKINESIA DEFORMATION SEQUENCE (FADS)
  MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR
  MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (CMS-ACHRD)

17

3

9

1

10

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: Rapsyn_N - pfam10579 NrfG - COG0457 TPR - cd00189 RING - cd00162 RING - smart00184	Swiss-Prot Protein: Q13702 Identical to: NP_005046 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TPR	cd00189	1.1e-11	124	238
RING	cd00162	3.7e-07	362	406
Rapsyn_N	pfam10579	1.9e-53	1	80
RING	smart00184	2.8e-05	363	402

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_043902	Disease	p.ALA189VAL	Fetal akinesia deformation sequence (FADS)
Swiss-Prot	VAR_043901	Disease	p.ARG164CYS	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
dbSNP	rs34312154	Polymorphism	p.ARG58CYS	N/A
Swiss-Prot	VAR_021217	Disease	p.ASN88LYS	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
Swiss-Prot	VAR_043897	Polymorphism	p.GLN8LYS	N/A
Swiss-Prot	VAR_043900	Disease	p.GLU162LYS	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
Swiss-Prot	VAR_021216	Disease	p.LEU14PRO	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
Swiss-Prot	VAR_043903	Disease	p.LEU283PRO	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
Swiss-Prot	VAR_062142	Polymorphism	p.PHE81LEU	N/A
Swiss-Prot	VAR_043899	Disease	p.PHE139SER	Fetal akinesia deformation sequence (FADS)
Swiss-Prot	VAR_043898	Disease	p.VAL45MET	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD)
OMIM	601592.0014	Disease	p.ALA189VAL	FETAL AKINESIA DEFORMATION SEQUENCE
OMIM	601592.0009	Disease	p.ARG164CYS	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY
OMIM	601592.0001	Disease	p.ASN88LYS	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY
OMIM	601592.0011	Disease	p.GLU162LYS	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY
OMIM	601592.0002	Disease	p.LEU14PRO	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY
OMIM	601592.0007	Disease	p.LEU283PRO	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY
OMIM	601592.0013	Disease	p.PHE139SER	FETAL AKINESIA DEFORMATION SEQUENCE
OMIM	601592.0005	Disease	p.TYR269TER	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY
OMIM	601592.0010	Disease	p.VAL45MET	MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR\|\|DEFICIENCY

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