Results for the protein: NP

Results for the Protein: NP_001164559

283806618

1181

CLCN2

NCBI

chloride channel protein 2 isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
  EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

3

1

3

1

0

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: EriC - COG0038 ClC_3_like - cd03684 ClC_euk - cd01036 ClC_6_like - cd03685 ClC_1_like - cd03683 EriC_like - cd01034 Voltage_gated_ClC - cd00400 EriC - cd01031 ClC_like - cd01033 Voltage_CLC - pfam00654 CBS_pair_EriC_assoc_ - cd04591	RefSeq Protein: NP_001164559 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ClC_3_like	cd03684	1.2e-32	31	521
ClC_euk	cd01036	6.1e-227	51	510
ClC_6_like	cd03685	2e-19	62	564
ClC_1_like	cd03683		64	523
Voltage_gated_ClC	cd00400	1.6e-77	73	498
EriC_like	cd01034	3.8e-10	73	510
EriC	cd01031	1.6e-10	76	514
ClC_like	cd01033	0.00035	81	506
CBS_pair_EriC_assoc_	cd04591	2e-22	662	794
Voltage_CLC	pfam00654	8.5e-106	99	503

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs9820367	Polymorphism	p.THR624SER	N/A
OMIM	600570.0004	Disease	p.ARG191GLN	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
OMIM	600570.0005	Disease	p.ARG533GLN	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
OMIM	600570.0003	Disease	p.GLY671GLU	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

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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