Results for the protein: Q8N3K9

Results for the Protein: Q8N3K9

182627649

202333

CMYA5

NCBI, UniProt

CMYA5_HUMAN RecName: Full=Cardiomyopathy-associated protein 5; AltName: Full=Dystrobrevin-binding protein 2; AltName: Full=Genethonin-3; AltName: Full=Myospryn; AltName: Full=SPRY domain-containing protein 2; AltName: Full=Tripartite motif-containing protein 76

			0 34 0 33 1

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Default View: FN3 - smart00060 FN3 - cd00063 fn3 - pfam00041 SPRY - smart00449 SPRY - pfam00622	Swiss-Prot Protein: Q8N3K9 Identical to: NP_705838 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FN3	cd00063	5.4e-09	3804	3895
fn3	pfam00041	0.00019	3705	3795
SPRY	pfam00622	4.4e-07	3942	4063
FN3	smart00060	7.8e-07	3705	3792
FN3	smart00060	0.00042	3804	3885
SPRY	smart00449	0.00034	3942	4061

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1428223	Polymorphism	p.ALA1567GLU	N/A
dbSNP	rs4704585	Polymorphism	p.ALA1295VAL	N/A
dbSNP	rs16877135	Polymorphism	p.ALA1333VAL	N/A
dbSNP	rs16877147	Polymorphism	p.ALA1875VAL	N/A
dbSNP	rs80053679	Polymorphism	p.ARG3826GLN	N/A
dbSNP	rs1129770	Polymorphism	p.ARG3927GLN	N/A
dbSNP	rs28362542	Polymorphism	p.ARG2708HIS	N/A
dbSNP	rs77023918	Polymorphism	p.ASP190GLY	N/A
dbSNP	rs16877150	Polymorphism	p.ASP1917GLY	N/A
Swiss-Prot	VAR_042472	Polymorphism	p.GLN175HIS	N/A
dbSNP	rs2278240	Polymorphism	p.GLY2935ARG	N/A
dbSNP	rs1366271	Polymorphism	p.GLY349ASP	N/A
dbSNP	rs16877124	Polymorphism	p.GLY591ASP	N/A
dbSNP	rs62621912	Polymorphism	p.GLY2324SER	N/A
dbSNP	rs3828611	Polymorphism	p.HIS3358GLN	N/A
dbSNP	rs16877141	Polymorphism	p.ILE1713ASN	N/A
dbSNP	rs16877133	Polymorphism	p.ILE1309VAL	N/A
dbSNP	rs13158477	Polymorphism	p.ILE1380VAL	N/A
dbSNP	rs1428225	Polymorphism	p.ILE1721VAL	N/A
dbSNP	rs1019762	Polymorphism	p.LEU1669SER	N/A
dbSNP	rs72635618	Polymorphism	p.LYS166ARG	N/A
dbSNP	rs2278239	Polymorphism	p.LYS2906ASN	N/A
dbSNP	rs7721884	Polymorphism	p.LYS2383GLU	N/A
dbSNP	rs12514461	Polymorphism	p.LYS3583GLU	N/A
dbSNP	rs62621915	Polymorphism	p.PHE1038LEU	N/A
dbSNP	rs72635619	Polymorphism	p.PHE594LEU	N/A
dbSNP	rs10043986	Polymorphism	p.PRO4063LEU	N/A
dbSNP	rs1428224	Polymorphism	p.SER1599ALA	N/A
dbSNP	rs57544556	Polymorphism	p.SER651ARG	N/A
dbSNP	rs16877151	Polymorphism	p.SER1920GLY	N/A
dbSNP	rs28362541	Polymorphism	p.THR2693ILE	N/A
dbSNP	rs16877109	Polymorphism	p.TYR64CYS	N/A
dbSNP	rs6893869	Polymorphism	p.VAL1006ALA	N/A
dbSNP	rs6859595	Polymorphism	p.VAL2262LEU	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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