Results for the protein: Q9Y3Q7

Results for the Protein: Q9Y3Q7

20137582

8749

ADAM18

NCBI, UniProt

ADA18_HUMAN RecName: Full=Disintegrin and metalloproteinase domain-containing protein 18; Short=ADAM 18; AltName: Full=Transmembrane metalloproteinase-like, disintegrin-like, and cysteine-rich protein III; Short=tMDC III; Flags: Precursor

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Default View: DISIN - smart00050 ACR - smart00608 ADAM_CR - pfam08516	Swiss-Prot Protein: Q9Y3Q7 Identical to: NP_055052 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ADAM_CR	pfam08516	7.7e-49	479	597
ACR	smart00608	6.4e-57	479	617

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs73605945	Polymorphism	p.GLN142LEU	N/A
dbSNP	rs76378145	Polymorphism	p.GLU723GLY	N/A
dbSNP	rs76766907	Polymorphism	p.LYS654ARG	N/A
Swiss-Prot	VAR_066314	Polymorphism	p.MET344ILE	N/A
Swiss-Prot	VAR_066315	Polymorphism	p.MET362LYS	N/A
Swiss-Prot	VAR_066312	Polymorphism	p.PRO170SER	N/A
Swiss-Prot	VAR_066316	Polymorphism	p.SER536LEU	N/A
dbSNP	rs79109719	Polymorphism	p.SER716THR	N/A
Swiss-Prot	VAR_066313	Polymorphism	p.VAL284GLY	N/A
dbSNP	rs10093794	Polymorphism	p.VAL212PHE	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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