Results for the protein: Q6UB98

Results for the Protein: Q6UB98

160358772

23253

ANKRD12

NCBI, UniProt

ANR12_HUMAN RecName: Full=Ankyrin repeat domain-containing protein 12; AltName: Full=Ankyrin repeat-containing cofactor 2; AltName: Full=GAC-1 protein

			0 12 0 9 3

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Default View: Arp - COG0666 ANK - cd00204 Ank - pfam00023 ANK - smart00248	Swiss-Prot Protein: Q6UB98 Identical to: NP_056023 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ANK	cd00204	2.3e-36	179	300
Ank	pfam00023	1.9e-09	184	216
Ank	pfam00023	2e-07	217	249
Ank	pfam00023	6.4e-07	250	282
ANK	smart00248	7.6e-07	184	213
ANK	smart00248	1.6e-06	217	246
ANK	smart00248	7e-07	250	279

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs35101529	Polymorphism	p.GLU390ASP	N/A
dbSNP	rs35889774	Polymorphism	p.GLU927ASP	N/A
Swiss-Prot	VAR_048274	Polymorphism	p.LEU998SER	N/A
dbSNP	rs4798791	Polymorphism	p.LYS906ARG	N/A
dbSNP	rs2298548	Polymorphism	p.PRO277ALA	N/A
dbSNP	rs2298546	Polymorphism	p.SER818ASN	N/A
dbSNP	rs112381702	Polymorphism	p.SER875LEU	N/A
dbSNP	rs3744822	Polymorphism	p.SER1758PRO	N/A
Swiss-Prot	VAR_019425	Polymorphism	p.SER171THR	N/A
dbSNP	rs72939232	Polymorphism	p.THR840ASN	N/A
dbSNP	rs17498752	Polymorphism	p.THR507ILE	N/A
Swiss-Prot	VAR_048273	Polymorphism	p.THR531SER	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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