Results for the protein: Q9NRJ7

Results for the Protein: Q9NRJ7

308153560

57717

PCDHB16

NCBI, UniProt

PCDBG_HUMAN RecName: Full=Protocadherin beta-16; Short=PCDH-beta-16; AltName: Full=Protocadherin-3X; Flags: Precursor

			0 13 0 12 1

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Default View: Cadherin_2 - pfam08266 CA_like - cd00031 Cadherin - pfam00028 CA - smart00112	Swiss-Prot Protein: Q9NRJ7 Identical to: NP_066008 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CA_like	cd00031	6.5e-48	246	443
CA_like	cd00031	1.3e-54	455	664
Cadherin	pfam00028	8e-06	138	233
Cadherin	pfam00028	2.1e-22	247	338
Cadherin	pfam00028	5.6e-09	352	442
Cadherin	pfam00028	2.5e-22	456	552
Cadherin	pfam00028	5.7e-06	572	663
Cadherin_2	pfam08266	4.8e-53	29	112
CA	smart00112	1.2e-21	158	240
CA	smart00112	3.9e-23	267	345
CA	smart00112	7.2e-20	371	449
CA	smart00112	1.2e-26	476	559
CA	smart00112	2.3e-12	592	670

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17844648	Polymorphism	p.ALA508THR	N/A
dbSNP	rs17844666	Polymorphism	p.ALA710VAL	N/A
dbSNP	rs13176519	Polymorphism	p.ARG652CYS	N/A
dbSNP	rs61743469	Polymorphism	p.ARG202GLN	N/A
dbSNP	rs17844651	Polymorphism	p.ARG525GLN	N/A
Swiss-Prot	VAR_055587	Polymorphism	p.ASP91GLU	N/A
dbSNP	rs17844652	Polymorphism	p.GLU526ALA	N/A
dbSNP	rs17844653	Polymorphism	p.GLU526ASP	N/A
dbSNP	rs28398442	Polymorphism	p.LEU208VAL	N/A
dbSNP	rs17844658	Polymorphism	p.SER543ARG	N/A
dbSNP	rs2697532	Polymorphism	p.SER532GLY	N/A
dbSNP	rs17844646	Polymorphism	p.THR482ILE	N/A
dbSNP	rs28664170	Polymorphism	p.VAL347LEU	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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