Results for the protein: Q8WXH0

Results for the Protein: Q8WXH0

116242809

23224

SYNE2

NCBI, UniProt

SYNE2_HUMAN RecName: Full=Nesprin-2; AltName: Full=Nuclear envelope spectrin repeat protein 2; AltName: Full=Nucleus and actin connecting element protein; Short=Protein NUANCE; AltName: Full=Synaptic nuclear envelope protein 2; Short=Syne-2

Known Diseases associated with this Protein:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT (EDMD5)

2

37

1

11

27

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: SAC6 - COG5069 CH - pfam00307 CH - cd00014 CH - smart00033 CAMSAP_CH - pfam11971 SPEC - smart00150 SPEC - cd00176 Spectrin - pfam00435 KASH - pfam10541	Swiss-Prot Protein: Q8WXH0 Identical to: NP_055995 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CH	cd00014	2.1e-27	182	286
SPEC	cd00176	4.7e-15	4945	5169
SPEC	cd00176	1.1e-08	5171	5384
SPEC	cd00176	1e-26	5918	6135
SPEC	cd00176	2.7e-30	6137	6351
SPEC	cd00176	4.6e-17	6552	6771
SAC6	COG5069	2.4e-07	25	583
CH	pfam00307	1.3e-21	32	136
CH	pfam00307	8.4e-34	182	286
Spectrin	pfam00435	3.9e-06	6551	6658
CH	smart00033	1.8e-18	33	134
CH	smart00033	1.5e-19	183	281
CAMSAP_CH	pfam11971	1.7e-07	190	267
SPEC	smart00150	0.0004	2730	2830
SPEC	smart00150	4.6e-05	4947	5052
SPEC	smart00150	1.1e-05	5059	5166
SPEC	smart00150	2.4e-10	5920	6018
SPEC	smart00150	2.1e-10	6025	6132
SPEC	smart00150	3.6e-12	6139	6241
SPEC	smart00150	1.4e-09	6248	6348
SPEC	smart00150	2.1e-12	6554	6657
KASH	pfam10541	6.4e-38	6826	6885

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_050242	Polymorphism	p.ALA2347GLU	N/A
Swiss-Prot	VAR_027950	Polymorphism	p.ALA2394THR	N/A
Swiss-Prot	VAR_050245	Polymorphism	p.ALA2395THR	N/A
Swiss-Prot	VAR_050241	Polymorphism	p.ALA2284VAL	N/A
Swiss-Prot	VAR_050262	Polymorphism	p.ALA6155VAL	N/A
Swiss-Prot	VAR_050256	Polymorphism	p.ARG4041HIS	N/A
Swiss-Prot	VAR_050239	Polymorphism	p.ARG1393TRP	N/A
Swiss-Prot	VAR_050264	Polymorphism	p.ARG6697TRP	N/A
Swiss-Prot	VAR_050255	Polymorphism	p.ASN3982HIS	N/A
Swiss-Prot	VAR_027949	Polymorphism	p.ASN2358SER	N/A
Swiss-Prot	VAR_050251	Polymorphism	p.ASN3130SER	N/A
Swiss-Prot	VAR_050261	Polymorphism	p.ASP5547ASN	N/A
Swiss-Prot	VAR_050252	Polymorphism	p.ASP3253HIS	N/A
Swiss-Prot	VAR_050250	Polymorphism	p.GLU3026ASP	N/A
dbSNP	rs12881815	Polymorphism	p.GLU4913LYS	N/A
Swiss-Prot	VAR_027951	Polymorphism	p.GLY2801SER	N/A
dbSNP	rs8010699	Polymorphism	p.HIS3309ARG	N/A
Swiss-Prot	VAR_050259	Polymorphism	p.HIS5086TYR	N/A
dbSNP	rs57259697	Polymorphism	p.ILE1187LEU	N/A
dbSNP	rs35920722	Polymorphism	p.ILE3423MET	N/A
dbSNP	rs9944035	Polymorphism	p.ILE574THR	N/A
Swiss-Prot	VAR_050247	Polymorphism	p.ILE2564VAL	N/A
Swiss-Prot	VAR_050249	Polymorphism	p.ILE2942VAL	N/A
dbSNP	rs10151658	Polymorphism	p.LEU5186MET	N/A
dbSNP	rs35203186	Polymorphism	p.LYS3523GLN	N/A
Swiss-Prot	VAR_050263	Polymorphism	p.LYS6681GLU	N/A
Swiss-Prot	VAR_050240	Polymorphism	p.MET1969THR	N/A
dbSNP	rs17766354	Polymorphism	p.PRO4912ALA	N/A
Swiss-Prot	VAR_027947	Polymorphism	p.PRO8SER	N/A
dbSNP	rs35554503	Polymorphism	p.SER432ARG	N/A
Swiss-Prot	VAR_050244	Polymorphism	p.SER2359ASN	N/A
Swiss-Prot	VAR_050243	Polymorphism	p.SER2359GLY	N/A
dbSNP	rs1890908	Polymorphism	p.SER2802GLY	N/A
Swiss-Prot	VAR_062977	Disease	p.THR6211MET	Emery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5)
dbSNP	rs41334947	Polymorphism	p.TRP4001ARG	N/A
Swiss-Prot	VAR_036256	Polymorphism	p.TYR6200CYS	N/A
Swiss-Prot	VAR_050246	Polymorphism	p.VAL2490GLY	N/A
Swiss-Prot	VAR_036255	Polymorphism	p.VAL5940ILE	N/A
OMIM	608442.0001	Disease	p.THR89MET	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258