Results for the protein: Q96AQ7

Results for the Protein: Q96AQ7

20138281

63924

CIDEC

NCBI, UniProt

CIDEC_HUMAN RecName: Full=Cell death activator CIDE-3; AltName: Full=Cell death-inducing DFFA-like effector protein C; AltName: Full=Fat-specific protein FSP27 homolog

Known Diseases associated with this Protein:
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (1 FAMILY)

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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: CIDE_N_FSP27 - cd06538 CIDE-N - pfam02017 CIDE_N_A - cd06539 CIDE_N_B - cd06537 CIDE_N_CAD - cd06535 CIDE_N_ICAD - cd06536 CIDE_N - cd01615 CAD - smart00266	Swiss-Prot Protein: Q96AQ7 Identical to: NP_071377, NP_001186481 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CIDE_N_CAD	cd06535	3.6e-05	41	118
CIDE_N_ICAD	cd06536	4e-14	41	118
CIDE_N_B	cd06537	1.2e-24	41	122
CIDE_N_A	cd06539	4.4e-31	41	118
CIDE_N_FSP27	cd06538	3.5e-57	41	120
CIDE-N	pfam02017	1.2e-40	41	118
CAD	smart00266	1.4e-41	43	116

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs61742367	Polymorphism	p.THR49MET	N/A
OMIM	612120.0001	Disease	p.GLU173TER	LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (1 family)

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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