Results for the protein: P02511

Results for the Protein: P02511

117385

1410

CRYAB

NCBI, UniProt

CRYAB_HUMAN RecName: Full=Alpha-crystallin B chain; AltName: Full=Alpha(B)-crystallin; AltName: Full=Heat shock protein beta-5; Short=HspB5; AltName: Full=Renal carcinoma antigen NY-REN-27; AltName: Full=Rosenthal fiber component

Known Diseases associated with this Protein:
  CARDIOMYOPATHY, DILATED 1II (CMD1II)
  CARDIOMYOPATHY, DILATED, 1II
  CATARACT 16, CONGENITAL LAMELLAR
  CATARACT 16, POSTERIOR POLAR
  CATARACT, JUVENILE
  MYOPATHY, MYOFIBRILLAR, 2
  MYOPATHY, MYOFIBRILLAR, 2 (MFM2)

12

2

8

0

6

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: Crystallin - pfam00525 IbpA - COG0071 ACD_HspB8_like - cd06480 ACD_HspB1_like - cd06475 ACD_alphaA-crystalli - cd06497 ACD_HspB9_like - cd06481 ACD_HspB2_like - cd06476 ACD_HspB7_like - cd06479 ACD_alphaB-crystalli - cd06498 HSP20 - pfam00011 ACD_sHsps-like - cd06464 ACD_HspB3_Like - cd06477 ACD_HspB4-5-6 - cd06478 metazoan_ACD - cd06526 ACD_sHsps_p23-like - cd00298	Swiss-Prot Protein: P02511 Identical to: NP_001876 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ACD_HspB8_like	cd06480	4.6e-20	59	149
ACD_HspB1_like	cd06475	6.7e-45	64	149
ACD_alphaA-crystalli	cd06497	6.4e-48	64	149
ACD_HspB2_like	cd06476	3.7e-29	66	149
ACD_HspB7_like	cd06479	2.9e-11	66	149
ACD_HspB9_like	cd06481	4.4e-12	66	149
ACD_sHsps-like	cd06464	2.9e-22	67	149
ACD_HspB3_Like	cd06477	9.4e-14	67	149
ACD_HspB4-5-6	cd06478	1.4e-52	67	149
ACD_alphaB-crystalli	cd06498	5e-68	67	150
ACD_sHsps_p23-like	cd00298	3.1e-15	68	149
metazoan_ACD	cd06526	1.2e-47	68	149
Crystallin	pfam00525	2.9e-36	1	59
HSP20	pfam00011	3.3e-42	67	162

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_007899	Disease	p.ARG120GLY	Myopathy, myofibrillar, 2 (MFM2)
Swiss-Prot	VAR_070036	Disease	p.ARG157HIS	Cardiomyopathy, dilated 1II (CMD1II)
Swiss-Prot	VAR_069528	Disease	p.ASP109HIS	Myopathy, myofibrillar, 2 (MFM2)
Swiss-Prot	VAR_070035	Disease	p.GLY154SER	Cardiomyopathy, dilated 1II (CMD1II)
Swiss-Prot	VAR_014608	Polymorphism	p.PRO51LEU	N/A
Swiss-Prot	VAR_014607	Polymorphism	p.SER41TYR	N/A
OMIM	123590.0001	Disease	p.ARG120GLY	MYOPATHY, MYOFIBRILLAR, 2
OMIM	123590.0006	Disease	p.ARG157HIS	CARDIOMYOPATHY, DILATED, 1II
OMIM	123590.0010	Disease	p.ARG56TRP	CATARACT, JUVENILE
OMIM	123590.0008	Disease	p.ASP140ASN	CATARACT 16, CONGENITAL LAMELLAR
OMIM	123590.0011	Disease	p.ASP109HIS	MYOPATHY, MYOFIBRILLAR, 2
OMIM	123590.0004	Disease	p.GLN151TER	MYOPATHY, MYOFIBRILLAR, 2
OMIM	123590.0007	Disease	p.GLY154SER	CARDIOMYOPATHY, DILATED, 1II
OMIM	123590.0009	Disease	p.PRO20SER	CATARACT 16, POSTERIOR POLAR

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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