Results for the protein: NP

Results for the Protein: NP_001036169

112382222

1187

CLCNKA

NCBI

chloride channel protein ClC-Ka isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
BARTTER SYNDROME, TYPE 4B

2

9

2

9

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 ClC_euk - cd01036 Voltage_gated_ClC - cd00400 EriC_like - cd01034 CBS_pair - cd02205 CBS_pair_EriC_assoc_ - cd04591 CBS - smart00116	RefSeq Protein: NP_001036169 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EriC	COG0038	4.1e-11	37	540
ClC_1_like	cd03683	5.8e-302	49	534
EriC	cd01031	2.6e-08	56	525
Voltage_gated_ClC	cd00400	6e-74	57	513
ClC_euk	cd01036	2.1e-214	57	521
ClC_3_like	cd03684	3.5e-19	57	532
EriC_like	cd01034	3.3e-07	61	521
CBS_pair	cd02205	7.7e-09	471	602
CBS_pair_EriC_assoc_	cd04591	4.8e-20	552	675
CBS	smart00116	7.3e-05	554	604

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1805152	Polymorphism	p.ALA447THR	N/A
dbSNP	rs10927887	Polymorphism	p.ARG83GLY	N/A
dbSNP	rs12140223	Polymorphism	p.ARG534TRP	N/A
dbSNP	rs79751787	Polymorphism	p.HIS357GLN	N/A
dbSNP	rs12746751	Polymorphism	p.PRO682LEU	N/A
dbSNP	rs34471231	Polymorphism	p.THR454ALA	N/A
dbSNP	rs139001368	Polymorphism	p.THR577ALA	N/A
dbSNP	rs12126269	Polymorphism	p.TYR315PHE	N/A
dbSNP	rs35747151	Polymorphism	p.VAL457ILE	N/A
OMIM	602024.0001	Disease	p.CYS80TRP	BARTTER SYNDROME, TYPE 4B
OMIM	602024.0002	Disease	p.GLN260TER	BARTTER SYNDROME, TYPE 4B

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