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Results for the Protein: Q8NF91
425906075

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.

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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 ↕
CHcd000142.2e-2328134
CHcd000141.4e-24179283
SPECcd001762e-1114471654
SPECcd001768.2e-1116561871
SPECcd001761.7e-0623082514
SPECcd001763.4e-0725162732
SPECcd001766.1e-1130653279
SPECcd001768.8e-1332813491
SPECcd001763.5e-0834933704
SPECcd001760.0007637093921
SPECcd001762.4e-1739234150
SPECcd001760.0007542384452
SPECcd001764.2e-0744544670
SPECcd001764.6e-1349945210
SPECcd001760.0004256335860
SPECcd001761.8e-1069087129
SPECcd001766.2e-1171317351
SPECcd001761.2e-2073537562
SPECcd001762.3e-3177817998
SPECcd001768.6e-3980008214
SPECcd001764.7e-3184418660
SAC6COG50691.8e-0620631
CHpfam003071.9e-2428134
CHpfam003078.5e-29179283
Spectrinpfam004352.9e-0638163919
Spectrinpfam004351.4e-0773527453
Spectrinpfam004359.4e-1077807882
Spectrinpfam004350.0001981088212
Spectrinpfam004353.6e-0984408547
CHsmart000333.6e-1929132
CHsmart000331.3e-18180278
SPECsmart001505.7e-0524092511
SPECsmart001501.9e-0525182620
SPECsmart001504.8e-0731763276
SPECsmart001503.6e-0632833385
SPECsmart001506.3e-0538193918
SPECsmart001502.7e-0839254032
SPECsmart001509e-0551045207
SPECsmart001501.6e-0759666069
SPECsmart001501.3e-0770257126
SPECsmart001502.7e-0771337235
SPECsmart001500.0002873557452
SPECsmart001505.8e-1174597559
SPECsmart001501.6e-1177837881
SPECsmart001501.1e-1278887995
SPECsmart001501.4e-1380028104
SPECsmart001503.7e-1681118211
SPECsmart001505.3e-2184438546
KASHpfam105412.3e-3887388797

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17082236 Polymorphismp.ALA8168SERN/A
Swiss-ProtVAR_056215Polymorphismp.ALA2795VALN/A
dbSNPrs76160752 Polymorphismp.ARG5780GLNN/A
dbSNPrs2295192 Polymorphismp.ARG8735GLNN/A
Swiss-ProtVAR_036252Polymorphismp.ARG4223HISN/A
Swiss-ProtVAR_062974Diseasep.ARG8095HISEmery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)
Swiss-ProtVAR_036254Polymorphismp.ARG8468HISN/A
Swiss-ProtVAR_056233Polymorphismp.ASN8161HISN/A
dbSNPrs111250109 Polymorphismp.ASP1730GLUN/A
Swiss-ProtVAR_056211Polymorphismp.GLN655ARGN/A
Swiss-ProtVAR_056230Polymorphismp.GLN6951HISN/A
Swiss-ProtVAR_056218Polymorphismp.GLU4060ASPN/A
Swiss-ProtVAR_036251Polymorphismp.GLU4210ASPN/A
dbSNPrs2130262 Polymorphismp.GLU4203LYSN/A
Swiss-ProtVAR_062976Diseasep.GLU8461LYSEmery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)
Swiss-ProtVAR_015548Polymorphismp.GLY8323ALAN/A
dbSNPrs2295191 Polymorphismp.GLY8737SERN/A
Swiss-ProtVAR_036253Polymorphismp.LEU5507ARGN/A
Swiss-ProtVAR_056224Polymorphismp.LEU4944METN/A
dbSNPrs2306916 Polymorphismp.LEU5015METN/A
Swiss-ProtVAR_056236Polymorphismp.LEU8741METN/A
dbSNPrs17082709 Polymorphismp.LEU885VALN/A
dbSNPrs75989452 Polymorphismp.LYS2157ARGN/A
Swiss-ProtVAR_056220Polymorphismp.LYS4121ARGN/A
Swiss-ProtVAR_056219Polymorphismp.LYS4121ASNN/A
Swiss-ProtVAR_056216Polymorphismp.LYS3874THRN/A
Swiss-ProtVAR_056228Polymorphismp.MET6566ILEN/A
Swiss-ProtVAR_056226Polymorphismp.MET5377LEUN/A
Swiss-ProtVAR_056231Polymorphismp.PHE7302VALN/A
Swiss-ProtVAR_056214Polymorphismp.SER2030GLYN/A
Swiss-ProtVAR_056232Polymorphismp.SER7506GLYN/A
Swiss-ProtVAR_056217Polymorphismp.SER3954THRN/A
Swiss-ProtVAR_056223Polymorphismp.SER4596THRN/A
Swiss-ProtVAR_056229Polymorphismp.THR6664ILEN/A
Swiss-ProtVAR_056235Polymorphismp.THR8687ILEN/A
dbSNPrs77675624 Polymorphismp.THR1586LYSN/A
Swiss-ProtVAR_056227Polymorphismp.THR5426METN/A
Swiss-ProtVAR_056213Polymorphismp.VAL1035ALAN/A
Swiss-ProtVAR_056222Polymorphismp.VAL4546ILEN/A
Swiss-ProtVAR_062975Diseasep.VAL8387LEUEmery-Dreifuss muscular dystrophy 4, autosomal dominant (EDMD4)
Swiss-ProtVAR_036250Polymorphismp.VAL3671METN/A
OMIM608441.0012 Diseasep.ALA3088THRVARIANT OF UNKNOWN SIGNIFICANCE
OMIM608441.0008 Diseasep.ARG257HISEMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
OMIM608441.0003 Diseasep.ARG2906TERSPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
OMIM608441.0012 Diseasep.GLN655ARGVARIANT OF UNKNOWN SIGNIFICANCE
OMIM608441.0006 Diseasep.GLN7386TERSPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
OMIM608441.0005 Diseasep.GLN7640TERSPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8
OMIM608441.0010 Diseasep.GLU646LYSEMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES
OMIM608441.0013 Diseasep.LEU3892SERVARIANT OF UNKNOWN SIGNIFICANCE
OMIM608441.0009 Diseasep.VAL572LEUEMERY-DREIFUSS MUSCULAR DYSTROPHY 4



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