Results for the protein: P51801

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EriC	COG0038	8.7e-13	37	540
ClC_1_like	cd03683		49	534
EriC	cd01031	1.7e-08	56	525
Voltage_gated_ClC	cd00400	2.1e-78	57	513
ClC_euk	cd01036	8.1e-233	57	521
ClC_3_like	cd03684	1.2e-18	57	532
EriC_like	cd01034	8.8e-07	61	521
CBS_pair	cd02205	5.5e-09	471	602
CBS_pair_EriC_assoc_	cd04591	1.2e-25	552	676
CBS_pair_SpoIVFB_Eri	cd04612	0.00082	553	676
Voltage_CLC	pfam00654	1.3e-74	102	514
CBS	pfam00571	7.2e-07	547	605
CBS	pfam00571	0.00099	623	679
CBS	smart00116	2.7e-05	554	604

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_001626	Disease	p.ALA349ASP	Bartter syndrome 3 (BS3)
dbSNP	rs1889789	Polymorphism	p.ALA214GLY	N/A
Swiss-Prot	VAR_001625	Disease	p.ALA204THR	Bartter syndrome 3 (BS3)
Swiss-Prot	VAR_069104	Polymorphism	p.ALA287VAL	N/A
Swiss-Prot	VAR_001628	Disease	p.ARG438CYS	Bartter syndrome 3 (BS3)
dbSNP	rs2015352	Polymorphism	p.ARG27LEU	N/A
Swiss-Prot	VAR_046799	Polymorphism	p.ARG395TRP	N/A
Swiss-Prot	VAR_014467	Polymorphism	p.ASN143HIS	N/A
dbSNP	rs6650119	Polymorphism	p.ILE419VAL	N/A
dbSNP	rs2275166	Polymorphism	p.LYS578GLU	N/A
dbSNP	rs5253	Polymorphism	p.MET562THR	N/A
dbSNP	rs34851419	Polymorphism	p.PHE4LEU	N/A
Swiss-Prot	VAR_001624	Disease	p.PRO124LEU	Bartter syndrome 3 (BS3)
dbSNP	rs5256	Polymorphism	p.SER88ARG	N/A
dbSNP	rs5255	Polymorphism	p.SER660LEU	N/A
dbSNP	rs12140311	Polymorphism	p.THR481SER	N/A
Swiss-Prot	VAR_001627	Disease	p.TYR432HIS	Bartter syndrome 3 (BS3)
dbSNP	rs35530360	Polymorphism	p.VAL104ILE	N/A
Swiss-Prot	VAR_046798	Polymorphism	p.VAL126LEU	N/A
dbSNP	rs5251	Polymorphism	p.VAL334LEU	N/A
OMIM	602023.0004	Disease	p.ALA349ASP	BARTTER SYNDROME, TYPE 3
OMIM	602023.0002	Disease	p.ALA204THR	BARTTER SYNDROME, TYPE 3
OMIM	602023.0003	Disease	p.ARG438CYS	BARTTER SYNDROME, TYPE 3
OMIM	602023.0001	Disease	p.PRO124LEU	BARTTER SYNDROME, TYPE 3
OMIM	602023.0009	Disease	p.TRP610TER	BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA
OMIM	602023.0005	Disease	p.TYR432HIS	BARTTER SYNDROME, TYPE 3

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