Results for the protein: Q8NF91

Results for the Protein: Q8NF91

425906075

23345

SYNE1

NCBI, UniProt

SYNE1_HUMAN RecName: Full=Nesprin-1; AltName: Full=Enaptin; AltName: Full=Myocyte nuclear envelope protein 1; Short=Myne-1; AltName: Full=Nuclear envelope spectrin repeat protein 1; AltName: Full=Synaptic nuclear envelope protein 1; Short=Syne-1

Known Diseases associated with this Protein:
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 4
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT (EDMD4)
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
  VARIANT OF UNKNOWN SIGNIFICANCE

12

38

9

10

31

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 - cd00014 CH - pfam00307 CH - smart00033 SPEC - cd00176 SPEC - smart00150 Spectrin - pfam00435 KASH - pfam10541	Swiss-Prot Protein: Q8NF91 Identical to: NP_892006 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
CH	cd00014	1.4e-24	179	283
SPEC	cd00176	2e-11	1447	1654
SPEC	cd00176	8.2e-11	1656	1871
SPEC	cd00176	1.7e-06	2308	2514
SPEC	cd00176	3.4e-07	2516	2732
SPEC	cd00176	6.1e-11	3065	3279
SPEC	cd00176	8.8e-13	3281	3491
SPEC	cd00176	3.5e-08	3493	3704
SPEC	cd00176	0.00076	3709	3921
SPEC	cd00176	2.4e-17	3923	4150
SPEC	cd00176	0.00075	4238	4452
SPEC	cd00176	4.2e-07	4454	4670
SPEC	cd00176	4.6e-13	4994	5210
SPEC	cd00176	0.00042	5633	5860
SPEC	cd00176	1.8e-10	6908	7129
SPEC	cd00176	6.2e-11	7131	7351
SPEC	cd00176	1.2e-20	7353	7562
SPEC	cd00176	2.3e-31	7781	7998
SPEC	cd00176	8.6e-39	8000	8214
SPEC	cd00176	4.7e-31	8441	8660
SAC6	COG5069	1.8e-06	20	631
CH	pfam00307	1.9e-24	28	134
CH	pfam00307	8.5e-29	179	283
Spectrin	pfam00435	2.9e-06	3816	3919
Spectrin	pfam00435	1.4e-07	7352	7453
Spectrin	pfam00435	9.4e-10	7780	7882
Spectrin	pfam00435	0.00019	8108	8212
Spectrin	pfam00435	3.6e-09	8440	8547
CH	smart00033	3.6e-19	29	132
CH	smart00033	1.3e-18	180	278
SPEC	smart00150	5.7e-05	2409	2511
SPEC	smart00150	1.9e-05	2518	2620
SPEC	smart00150	4.8e-07	3176	3276
SPEC	smart00150	3.6e-06	3283	3385
SPEC	smart00150	6.3e-05	3819	3918
SPEC	smart00150	2.7e-08	3925	4032
SPEC	smart00150	9e-05	5104	5207
SPEC	smart00150	1.6e-07	5966	6069
SPEC	smart00150	1.3e-07	7025	7126
SPEC	smart00150	2.7e-07	7133	7235
SPEC	smart00150	0.00028	7355	7452
SPEC	smart00150	5.8e-11	7459	7559
SPEC	smart00150	1.6e-11	7783	7881
SPEC	smart00150	1.1e-12	7888	7995
SPEC	smart00150	1.4e-13	8002	8104
SPEC	smart00150	3.7e-16	8111	8211
SPEC	smart00150	5.3e-21	8443	8546
KASH	pfam10541	2.3e-38	8738	8797

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17082236	Polymorphism	p.ALA8168SER	N/A
Swiss-Prot	VAR_056215	Polymorphism	p.ALA2795VAL	N/A
dbSNP	rs76160752	Polymorphism	p.ARG5780GLN	N/A
dbSNP	rs2295192	Polymorphism	p.ARG8735GLN	N/A
Swiss-Prot	VAR_036252	Polymorphism	p.ARG4223HIS	N/A
Swiss-Prot	VAR_062974	Disease	p.ARG8095HIS	Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)
Swiss-Prot	VAR_036254	Polymorphism	p.ARG8468HIS	N/A
Swiss-Prot	VAR_056233	Polymorphism	p.ASN8161HIS	N/A
dbSNP	rs111250109	Polymorphism	p.ASP1730GLU	N/A
Swiss-Prot	VAR_056211	Polymorphism	p.GLN655ARG	N/A
Swiss-Prot	VAR_056230	Polymorphism	p.GLN6951HIS	N/A
Swiss-Prot	VAR_056218	Polymorphism	p.GLU4060ASP	N/A
Swiss-Prot	VAR_036251	Polymorphism	p.GLU4210ASP	N/A
dbSNP	rs2130262	Polymorphism	p.GLU4203LYS	N/A
Swiss-Prot	VAR_062976	Disease	p.GLU8461LYS	Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)
Swiss-Prot	VAR_015548	Polymorphism	p.GLY8323ALA	N/A
dbSNP	rs2295191	Polymorphism	p.GLY8737SER	N/A
Swiss-Prot	VAR_036253	Polymorphism	p.LEU5507ARG	N/A
Swiss-Prot	VAR_056224	Polymorphism	p.LEU4944MET	N/A
dbSNP	rs2306916	Polymorphism	p.LEU5015MET	N/A
Swiss-Prot	VAR_056236	Polymorphism	p.LEU8741MET	N/A
dbSNP	rs17082709	Polymorphism	p.LEU885VAL	N/A
dbSNP	rs75989452	Polymorphism	p.LYS2157ARG	N/A
Swiss-Prot	VAR_056220	Polymorphism	p.LYS4121ARG	N/A
Swiss-Prot	VAR_056219	Polymorphism	p.LYS4121ASN	N/A
Swiss-Prot	VAR_056216	Polymorphism	p.LYS3874THR	N/A
Swiss-Prot	VAR_056228	Polymorphism	p.MET6566ILE	N/A
Swiss-Prot	VAR_056226	Polymorphism	p.MET5377LEU	N/A
Swiss-Prot	VAR_056231	Polymorphism	p.PHE7302VAL	N/A
Swiss-Prot	VAR_056214	Polymorphism	p.SER2030GLY	N/A
Swiss-Prot	VAR_056232	Polymorphism	p.SER7506GLY	N/A
Swiss-Prot	VAR_056217	Polymorphism	p.SER3954THR	N/A
Swiss-Prot	VAR_056223	Polymorphism	p.SER4596THR	N/A
Swiss-Prot	VAR_056229	Polymorphism	p.THR6664ILE	N/A
Swiss-Prot	VAR_056235	Polymorphism	p.THR8687ILE	N/A
dbSNP	rs77675624	Polymorphism	p.THR1586LYS	N/A
Swiss-Prot	VAR_056227	Polymorphism	p.THR5426MET	N/A
Swiss-Prot	VAR_056213	Polymorphism	p.VAL1035ALA	N/A
Swiss-Prot	VAR_056222	Polymorphism	p.VAL4546ILE	N/A
Swiss-Prot	VAR_062975	Disease	p.VAL8387LEU	Emery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)
Swiss-Prot	VAR_036250	Polymorphism	p.VAL3671MET	N/A
OMIM	608441.0012	Disease	p.ALA3088THR	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	608441.0008	Disease	p.ARG257HIS	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
OMIM	608441.0003	Disease	p.ARG2906TER	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
OMIM	608441.0012	Disease	p.GLN655ARG	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	608441.0006	Disease	p.GLN7386TER	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
OMIM	608441.0005	Disease	p.GLN7640TER	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
OMIM	608441.0010	Disease	p.GLU646LYS	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
OMIM	608441.0013	Disease	p.LEU3892SER	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	608441.0009	Disease	p.VAL572LEU	EMERY-DREIFUSS MUSCULAR DYSTROPHY 4

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