Results for the protein: NP

Results for the Protein: NP_001164558

283806616

1181

CLCN2

NCBI

chloride channel protein 2 isoform 2 [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: ClC_6_like - cd03685 EriC - COG0038 ClC_1_like - cd03683 EriC - cd01031 ClC_3_like - cd03684 Voltage_gated_ClC - cd00400 ClC_euk - cd01036 EriC_like - cd01034 Voltage_CLC - pfam00654 CBS_pair_EriC_assoc_ - cd04591	RefSeq Protein: NP_001164558 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EriC	COG0038	6.4e-17	75	555
ClC_1_like	cd03683		90	550
EriC	cd01031	8.9e-10	97	541
Voltage_gated_ClC	cd00400	2.1e-73	98	525
ClC_euk	cd01036	7.1e-222	98	537
ClC_3_like	cd03684	1.4e-24	98	548
EriC_like	cd01034	2.1e-09	102	537
CBS_pair_EriC_assoc_	cd04591	2e-22	689	821
Voltage_CLC	pfam00654	4.7e-90	143	530

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs9820367	Polymorphism	p.THR651SER	N/A
OMIM	600570.0004	Disease	p.ARG235GLN	EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8
OMIM	600570.0005	Disease	p.ARG560GLN	EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
OMIM	600570.0003	Disease	p.GLY698GLU	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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