Results for the protein: P51800

Results for the Protein: P51800

1705857

1187

CLCNKA

NCBI, UniProt

CLCKA_HUMAN RecName: Full=Chloride channel protein ClC-Ka; Short=Chloride channel Ka; AltName: Full=ClC-K1

Known Diseases associated with this Protein:
BARTTER SYNDROME 4B (BS4B)
BARTTER SYNDROME, TYPE 4B

3

13

2

9

5

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_euk - cd01036 ClC_3_like - cd03684 Voltage_gated_ClC - cd00400 EriC_like - cd01034 Voltage_CLC - pfam00654 CBS_pair - cd02205 CBS - pfam00571 CBS_pair_EriC_assoc_ - cd04591 CBS - smart00116	Swiss-Prot Protein: P51800 Identical to: NP_004061 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	5.3e-21	552	676
Voltage_CLC	pfam00654	2.7e-76	102	514
CBS	pfam00571	1.8e-06	547	605
CBS	smart00116	7.3e-05	554	604

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1805152	Polymorphism	p.ALA447THR	N/A
Swiss-Prot	VAR_033769	Polymorphism	p.ALA287VAL	N/A
dbSNP	rs10927887	Polymorphism	p.ARG83GLY	N/A
Swiss-Prot	VAR_033768	Polymorphism	p.ARG45HIS	N/A
Swiss-Prot	VAR_048695	Polymorphism	p.ARG8HIS	N/A
dbSNP	rs12140223	Polymorphism	p.ARG534TRP	N/A
dbSNP	rs79751787	Polymorphism	p.HIS357GLN	N/A
Swiss-Prot	VAR_030784	Polymorphism	p.MET67ILE	N/A
dbSNP	rs12746751	Polymorphism	p.PRO683LEU	N/A
dbSNP	rs34471231	Polymorphism	p.THR454ALA	N/A
dbSNP	rs139001368	Polymorphism	p.THR577ALA	N/A
Swiss-Prot	VAR_063074	Disease	p.TRP80CYS	Bartter syndrome 4B (BS4B)
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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