Results for the protein: Q13492

Results for the Protein: Q13492

116242714

8301

PICALM

NCBI, UniProt

PICAL_HUMAN RecName: Full=Phosphatidylinositol-binding clathrin assembly protein; AltName: Full=Clathrin assembly lymphoid myeloid leukemia protein

			0 5 0 0 5

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Default View: ANTH - pfam07651 ENTH - pfam01417 ENTH - smart00273 ANTH_AP180_CALM - cd03564 VHS_ENTH_ANTH - cd00197	Swiss-Prot Protein: Q13492 Identical to: NP_009097 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ANTH_AP180_CALM	cd03564	3.9e-51	22	138
ENTH	pfam01417	3.6e-12	19	141
ANTH	pfam07651	1.3e-102	19	285
ENTH	smart00273	3.6e-47	20	145

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_028194	Polymorphism	p.GLN579GLU	N/A
Swiss-Prot	VAR_028195	Polymorphism	p.PHE641LEU	N/A
Swiss-Prot	VAR_028192	Polymorphism	p.SER383PHE	N/A
Swiss-Prot	VAR_028191	Polymorphism	p.THR158PRO	N/A
Swiss-Prot	VAR_028193	Polymorphism	p.TRP578CYS	N/A

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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