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Results for the Protein: Q15149
209572726

PLEC_HUMAN RecName: Full=Plectin; Short=PCN; Short=PLTN; AltName: Full=Hemidesmosomal protein 1; Short=HD1; AltName: Full=Plectin-1

Known Diseases associated with this Protein:
  EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE (O-EBS)
1
20
0
12
9
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:

COG5045 - COG5045
S10_plectin - pfam03501
SAC6 - COG5069
CH - cd00014
CH - pfam00307
CH - smart00033
SPEC - cd00176
SPEC - smart00150
PLEC - smart00250
Plectin - pfam00681


Swiss-Prot Protein: Q15149
Identical to: NP_958782
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHcd000147.5e-27296400
SPECcd001766.8e-18754979
SPECcd001761.2e-0912271448
COG5045COG50451.3e-285113
S10_plectinpfam035015.4e-597104
SAC6COG50691.2e-09172761
CHpfam003075e-32180282
CHpfam003077.5e-31296400
Plectinpfam006811.5e-1028262870
Plectinpfam006815.1e-0928712908
Plectinpfam006811.6e-2129402984
Plectinpfam006813e-0731543198
Plectinpfam006811.9e-1031993236
Plectinpfam006811.8e-1932683312
Plectinpfam006813.3e-1034853529
Plectinpfam006812.2e-0935303567
Plectinpfam006813.6e-2135993643
Plectinpfam006811.9e-2038583902
Plectinpfam006812.9e-2039343978
Plectinpfam006811.2e-1841014145
Plectinpfam006813.8e-2241774221
Plectinpfam006814.6e-0842704312
Plectinpfam006815.8e-1944464490
Plectinpfam006813.3e-1645224566
CHsmart000331.7e-31181280
CHsmart000337.4e-21297395
SPECsmart001505.1e-09756856
PLECsmart002501.7e-0728262863
PLECsmart002504.2e-0828642901
PLECsmart002504.7e-0829022939
PLECsmart002502.1e-1029402977
PLECsmart002509.8e-0631543191
PLECsmart002501.1e-0631923229
PLECsmart002504.1e-1032303267
PLECsmart002504.3e-0732683305
PLECsmart002503.3e-0934853522
PLECsmart002507.8e-0835233560
PLECsmart002503.7e-0835613598
PLECsmart002505.3e-1035993636
PLECsmart002509.4e-0838203857
PLECsmart002501.2e-1138583895
PLECsmart002509.8e-0838963933
PLECsmart002501.8e-0839343971
PLECsmart002508.7e-1140634100
PLECsmart002504.1e-0741014138
PLECsmart002502.9e-0541394176
PLECsmart002504.6e-1241774214
PLECsmart002501.3e-0942654305
PLECsmart002503.5e-0844084445
PLECsmart002504.2e-1444464483
PLECsmart002501.5e-0845224559
PLECsmart002507.9e-0645604597

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs58836306 Polymorphismp.ALA987THRN/A
Swiss-ProtVAR_053587Polymorphismp.ALA2194VALN/A
dbSNPrs35858667 Polymorphismp.ALA3171VALN/A
dbSNPrs11136336 Polymorphismp.ALA641VALN/A
Swiss-ProtVAR_060089Polymorphismp.ARG1386GLNN/A
dbSNPrs6558407 Polymorphismp.ARG2969HISN/A
Swiss-ProtVAR_015817Diseasep.ARG2110TRPEpidermolysis bullosa simplex, Ogna type (O-EBS)
Swiss-ProtVAR_053586Polymorphismp.ARG2150TRPN/A
Swiss-ProtVAR_053589Polymorphismp.ARG2821TRPN/A
dbSNPrs58308209 Polymorphismp.ASP3077GLUN/A
dbSNPrs62642465 Polymorphismp.ASP4004HISN/A
dbSNPrs200819891 Polymorphismp.GLU3006ASPN/A
dbSNPrs200180290 Polymorphismp.GLU3006GLNN/A
dbSNPrs201634351 Polymorphismp.GLU3006GLYN/A
Swiss-ProtVAR_053594Polymorphismp.GLY3490ALAN/A
Swiss-ProtVAR_062133Polymorphismp.HIS1459ARGN/A
dbSNPrs3135109 Polymorphismp.LEU1321VALN/A
dbSNPrs201422698 Polymorphismp.LEU3002VALN/A
Swiss-ProtVAR_053588Polymorphismp.SER2791PRON/A
Swiss-ProtVAR_053593Polymorphismp.THR3486METN/A
dbSNPrs35027700 Polymorphismp.VAL3162ILEN/A



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