Results for the protein: Q8TCT7

Results for the Protein: Q8TCT7

97537015

56928

SPPL2B

NCBI, UniProt

SPP2B_HUMAN RecName: Full=Signal peptide peptidase-like 2B; Short=SPP-like 2B; Short=SPPL2b; AltName: Full=Intramembrane protease 4; Short=IMP-4; AltName: Full=Presenilin homologous protein 4; Short=PSH4; AltName: Full=Presenilin-like protein 1; Flags: Precursor

			0 7 0 6 1

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Default View: PA_GO-like - cd02132 PA - pfam02225 PA_hSPPL_like - cd02129 PA - cd00538 Peptidase_A22B - pfam04258 PSN - smart00730	Swiss-Prot Protein: Q8TCT7 Identical to: NP_694533 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PA	cd00538	1.4e-17	44	163
PA_hSPPL_like	cd02129	7.1e-82	44	163
PA	pfam02225	2.6e-12	37	151
Peptidase_A22B	pfam04258	6.1e-157	213	503
PSN	smart00730	6e-115	217	492

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1128392	Polymorphism	p.ARG366HIS	N/A
dbSNP	rs61740630	Polymorphism	p.ARG512LEU	N/A
dbSNP	rs78751031	Polymorphism	p.ARG584TRP	N/A
dbSNP	rs17852546	Polymorphism	p.PRO370GLN	N/A
dbSNP	rs1128402	Polymorphism	p.PRO574GLN	N/A
Swiss-Prot	VAR_059780	Polymorphism	p.SER574PRO	N/A
dbSNP	rs28602188	Polymorphism	p.THR421ILE	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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