Results for the protein: O75140

Results for the Protein: O75140

510120820

9681

DEPDC5

NCBI, UniProt

DEPD5_HUMAN RecName: Full=DEP domain-containing protein 5

Known Diseases associated with this Protein:
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI (FFEVF)

4

3

0

0

7

Tips:

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Default View: DUF3608 - pfam12257 DEP_DEPDC5-like - cd04449 DEP - cd04371 DEP - smart00049 DEP - pfam00610	Swiss-Prot Protein: O75140 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DEP	cd04371	5.3e-16	1179	1259
DEP	pfam00610	2.3e-15	1190	1260
DUF3608	pfam12257	3.4e-55	100	382
DEP	smart00049	1.6e-19	1187	1262

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069263	Disease	p.ALA452VAL	Epilepsy, familial focal, with variable foci (FFEVF)
Swiss-Prot	VAR_053953	Polymorphism	p.ALA641VAL	N/A
Swiss-Prot	VAR_069264	Disease	p.ARG485GLN	Epilepsy, familial focal, with variable foci (FFEVF)
Swiss-Prot	VAR_069265	Disease	p.SER1073ARG	Epilepsy, familial focal, with variable foci (FFEVF)
Swiss-Prot	VAR_069266	Disease	p.SER1104LEU	Epilepsy, familial focal, with variable foci (FFEVF)
Swiss-Prot	VAR_053954	Polymorphism	p.SER712PHE	N/A
Swiss-Prot	VAR_024338	Polymorphism	p.SER491THR	N/A

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