Results for the protein: P61769

Results for the Protein: P61769

48428791

567

B2M

NCBI, UniProt

B2MG_HUMAN RecName: Full=Beta-2-microglobulin; Contains: RecName: Full=Beta-2-microglobulin form pI 5.3; Flags: Precursor

Known Diseases associated with this Protein:
  AMYLOIDOSIS, FAMILIAL VISCERAL
  HYPERCATABOLIC HYPOPROTEINEMIA (HYCATHYP)
  HYPOPROTEINEMIA, HYPERCATABOLIC

3

0

2

0

1

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: IgC_MHC_I_alpha3 - cd07698 IgC_beta2m - cd05770 IgC_MHC_II_alpha - cd05767 IgC_MHC_II_beta - cd05766 IgC - cd00098 C1-set - pfam07654 IGc1 - smart00407	Swiss-Prot Protein: P61769 Identical to: NP_004039 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IgC_MHC_II_alpha	cd05767	4.8e-15	24	116
IgC_beta2m	cd05770	1.2e-70	24	116
IgC_MHC_II_beta	cd05766	2.7e-09	25	117
IgC	cd00098	6.5e-21	27	116
C1-set	pfam07654	2.1e-32	31	112
IGc1	smart00407	5.7e-25	40	110

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_030660	Disease	p.ALA11PRO	Hypercatabolic hypoproteinemia (HYCATHYP)
OMIM	109700.0001	Disease	p.ALA11PRO	HYPOPROTEINEMIA, HYPERCATABOLIC
OMIM	109700.0002	Disease	p.ASP76ASN	AMYLOIDOSIS, FAMILIAL VISCERAL

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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