Results for the protein: Q8IVF2

Results for the Protein: Q8IVF2

172045740

113146

AHNAK2

NCBI, UniProt

AHNK2_HUMAN RecName: Full=Protein AHNAK2

			0 63 0 44 19

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Default View: PDZ - smart00228 PDZ_signaling - cd00992 PDZ - pfam00595 PDZ - cd00136	Swiss-Prot Protein: Q8IVF2 Identical to: NP_612429 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PDZ	cd00136	8.4e-05	122	191
PDZ	pfam00595	6.6e-06	112	191
PDZ	smart00228	0.00015	109	194

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs117379881	Polymorphism	p.ALA2015PRO	N/A
dbSNP	rs55650155	Polymorphism	p.ALA1175VAL	N/A
Swiss-Prot	VAR_059571	Polymorphism	p.ALA4085VAL	N/A
dbSNP	rs77154428	Polymorphism	p.ARG3241HIS	N/A
dbSNP	rs2582514	Polymorphism	p.ARG2862SER	N/A
dbSNP	rs11160825	Polymorphism	p.ASP3793ASN	N/A
Swiss-Prot	VAR_059572	Polymorphism	p.ASP4198ASN	N/A
Swiss-Prot	VAR_039072	Polymorphism	p.ASP2429GLU	N/A
Swiss-Prot	VAR_059564	Polymorphism	p.ASP3176GLU	N/A
dbSNP	rs2819429	Polymorphism	p.GLU2503ALA	N/A
dbSNP	rs55791176	Polymorphism	p.GLU1148ASP	N/A
Swiss-Prot	VAR_059560	Polymorphism	p.GLU1856ASP	N/A
Swiss-Prot	VAR_050646	Polymorphism	p.GLY5072ARG	N/A
Swiss-Prot	VAR_039076	Polymorphism	p.GLY5564ARG	N/A
dbSNP	rs28380382	Polymorphism	p.GLY3654GLU	N/A
dbSNP	rs61421370	Polymorphism	p.GLY5139GLU	N/A
dbSNP	rs74090119	Polymorphism	p.HIS4845GLN	N/A
Swiss-Prot	VAR_050640	Polymorphism	p.ILE4071MET	N/A
Swiss-Prot	VAR_039075	Polymorphism	p.LEU5028MET	N/A
dbSNP	rs2582513	Polymorphism	p.LEU2333PRO	N/A
dbSNP	rs2819421	Polymorphism	p.LEU4326PRO	N/A
Swiss-Prot	VAR_039070	Polymorphism	p.LEU1470VAL	N/A
dbSNP	rs12890949	Polymorphism	p.LEU2146VAL	N/A
Swiss-Prot	VAR_039073	Polymorphism	p.LEU2430VAL	N/A
Swiss-Prot	VAR_059565	Polymorphism	p.LEU3177VAL	N/A
dbSNP	rs11850949	Polymorphism	p.LEU4321VAL	N/A
dbSNP	rs80275639	Polymorphism	p.LYS1492ARG	N/A
dbSNP	rs11847209	Polymorphism	p.LYS1822ARG	N/A
dbSNP	rs11845746	Polymorphism	p.LYS2410ARG	N/A
dbSNP	rs201377363	Polymorphism	p.LYS3142ARG	N/A
dbSNP	rs2819423	Polymorphism	p.LYS3902ASN	N/A
Swiss-Prot	VAR_050642	Polymorphism	p.LYS4232ASN	N/A
dbSNP	rs2819440	Polymorphism	p.MET1298ILE	N/A
dbSNP	rs9672139	Polymorphism	p.MET4536LEU	N/A
dbSNP	rs28714612	Polymorphism	p.MET3260THR	N/A
dbSNP	rs71421895	Polymorphism	p.MET1624VAL	N/A
dbSNP	rs11846918	Polymorphism	p.MET2107VAL	N/A
dbSNP	rs10438246	Polymorphism	p.MET3869VAL	N/A
dbSNP	rs10141053	Polymorphism	p.MET3961VAL	N/A
dbSNP	rs74090129	Polymorphism	p.MET852VAL	N/A
Swiss-Prot	VAR_050641	Polymorphism	p.PHE4138LEU	N/A
dbSNP	rs201959909	Polymorphism	p.PRO2180ALA	N/A
dbSNP	rs3742935	Polymorphism	p.PRO5397ALA	N/A
dbSNP	rs61996045	Polymorphism	p.PRO1562LEU	N/A
dbSNP	rs150446570	Polymorphism	p.PRO2041LEU	N/A
dbSNP	rs10438247	Polymorphism	p.PRO3336LEU	N/A
Swiss-Prot	VAR_059574	Polymorphism	p.PRO4478LEU	N/A
dbSNP	rs118171013	Polymorphism	p.PRO2014SER	N/A
dbSNP	rs72702027	Polymorphism	p.PRO2387SER	N/A
Swiss-Prot	VAR_039071	Polymorphism	p.SER2115ARG	N/A
dbSNP	rs78116894	Polymorphism	p.THR1208ALA	N/A
dbSNP	rs4465542	Polymorphism	p.THR4664ALA	N/A
dbSNP	rs2278607	Polymorphism	p.THR525ALA	N/A
dbSNP	rs115776887	Polymorphism	p.THR3962MET	N/A
dbSNP	rs748358	Polymorphism	p.THR5732MET	N/A
dbSNP	rs2819419	Polymorphism	p.TYR5184ASP	N/A
Swiss-Prot	VAR_039074	Polymorphism	p.VAL2616ALA	N/A
dbSNP	rs4264326	Polymorphism	p.VAL3363ALA	N/A
dbSNP	rs2819422	Polymorphism	p.VAL4278ALA	N/A
dbSNP	rs11625007	Polymorphism	p.VAL1133ILE	N/A
dbSNP	rs12433837	Polymorphism	p.VAL3083ILE	N/A
Swiss-Prot	VAR_050638	Polymorphism	p.VAL3796LEU	N/A
Swiss-Prot	VAR_039069	Polymorphism	p.VAL1266MET	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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