Results for the protein: P20138

Results for the Protein: P20138

116241290

945

CD33

NCBI, UniProt

CD33_HUMAN RecName: Full=Myeloid cell surface antigen CD33; AltName: Full=Sialic acid-binding Ig-like lectin 3; Short=Siglec-3; AltName: Full=gp67; AltName: CD_antigen=CD33; Flags: Precursor

			0 12 0 7 5

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Default View: Ig_Siglec_N - cd05712 IG_like - smart00410 IG - smart00409 V-set - pfam07686 C2-set_2 - pfam08205 ig - pfam00047	Swiss-Prot Protein: P20138 Identical to: NP_001763 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ig	pfam00047	3.2e-09	156	214
IG	smart00409	2.1e-07	26	139
IG_like	smart00410	2.1e-07	26	139
V-set	pfam07686	9.1e-09	28	136
C2-set_2	pfam08205	3.2e-07	145	223

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs12459419	Polymorphism	p.ALA14VAL	N/A
dbSNP	rs2455069	Polymorphism	p.ARG69GLY	N/A
Swiss-Prot	VAR_028261	Polymorphism	p.ARG202TRP	N/A
dbSNP	rs35112940	Polymorphism	p.GLY304ARG	N/A
Swiss-Prot	VAR_028262	Polymorphism	p.ILE242LEU	N/A
dbSNP	rs11882250	Polymorphism	p.PHE243LEU	N/A
Swiss-Prot	VAR_049906	Polymorphism	p.SER128ASN	N/A
dbSNP	rs61736475	Polymorphism	p.SER305PRO	N/A
Swiss-Prot	VAR_049908	Polymorphism	p.THR331ALA	N/A
dbSNP	rs35814802	Polymorphism	p.TRP22ARG	N/A
dbSNP	rs58981829	Polymorphism	p.VAL267ILE	N/A
Swiss-Prot	VAR_028264	Polymorphism	p.VAL294LEU	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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