Results for the protein: O43570

Results for the Protein: O43570

5915866

771

CA12

NCBI, UniProt

CAH12_HUMAN RecName: Full=Carbonic anhydrase 12; AltName: Full=Carbonate dehydratase XII; AltName: Full=Carbonic anhydrase XII; Short=CA-XII; AltName: Full=Tumor antigen HOM-RCC-3.1.3; Flags: Precursor

Known Diseases associated with this Protein:
HYPERCHLORHIDROSIS, ISOLATED
HYPERCHLORHIDROSIS, ISOLATED (HCHLH)

2

0

1

0

1

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Swiss-Prot Protein: O43570

Identical to: NP_001209

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
alpha_CARP_X_XI_like	cd03121	9.4e-28	36	290
alpha_CARP_receptor_	cd03122	1.2e-59	39	287
alpha_CA_VI_IX_XII_X	cd03123	8.3e-168	39	289
alpha_CA_prokaryotic	cd03124	3.6e-51	39	287
alpha_CA_VI	cd03125	1.1e-67	39	290
alpha_CA_XII_XIV	cd03126	4.4e-195	39	289
alpha_CA_IX	cd03150	2.6e-76	39	290
alpha_CARP_VIII	cd03120	5.7e-23	43	289
alpha_CA	cd00326	9.7e-101	52	286
alpha_CA_IV_XV_like	cd03117	1.6e-88	52	287
alpha_CA_V	cd03118	5.5e-45	52	289
alpha_CA_VII	cd03149	1.1e-48	52	289
Cah	COG3338	3.5e-17	1	289
Carb_anhydrase	pfam00194	3.8e-82	50	289

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_065292	Disease	p.GLU143LYS	Hyperchlorhidrosis, isolated (HCHLH)
OMIM	603263.0001	Disease	p.GLU143LYS	HYPERCHLORHIDROSIS, ISOLATED

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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