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Results for the Protein: Q86TH1
74750384

ATL2_HUMAN RecName: Full=ADAMTS-like protein 2; Short=ADAMTSL-2; Flags: Precursor

Known Diseases associated with this Protein:
  GELEOPHYSIC DYSPLASIA 1
  GELEOPHYSIC DYSPLASIA 1 (GPHYSD1)
21
2
7
1
15
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Default View:

TSP1 - smart00209
TSP_1 - pfam00090
ADAM_spacer1 - pfam05986
PLAC - pfam08686


Swiss-Prot Protein: Q86TH1
Identical to: NP_055509, NP_001138792
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TSP_1pfam000900.00058857907
TSP1smart002091.1e-0850106
ADAM_spacer1pfam059861.4e-26214331
TSP1smart002098.5e-06741795
TSP1smart002098.9e-09857908
PLACpfam086863.1e-16915948

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_066546Diseasep.ALA165THRGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_066549Diseasep.ALA239THRGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_066548Diseasep.ARG221CYSGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_066551Diseasep.ARG593CYSGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_066544Diseasep.ARG72GLNGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_054874Diseasep.ARG113HISGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_066545Diseasep.ARG159TRPGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_066547Diseasep.CYS171ARGGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_054875Diseasep.GLU114LYSGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_054877Diseasep.GLY811ARGGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_054876Diseasep.PRO147LEUGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_066553Diseasep.PRO906LEUGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_066552Diseasep.SER635LEUGeleophysic dysplasia 1 (GPHYSD1)
dbSNPrs62637569 Polymorphismp.THR30ALAN/A
Swiss-ProtVAR_066543Diseasep.TRP50CYSGeleophysic dysplasia 1 (GPHYSD1)
Swiss-ProtVAR_046011Polymorphismp.VAL364ILEN/A
OMIM612277.0007 Diseasep.ARG221CYSGELEOPHYSIC DYSPLASIA 1
OMIM612277.0006 Diseasep.ARG72GLNGELEOPHYSIC DYSPLASIA 1
OMIM612277.0002 Diseasep.ARG113HISGELEOPHYSIC DYSPLASIA 1
OMIM612277.0004 Diseasep.GLU811ARGGELEOPHYSIC DYSPLASIA 1
OMIM612277.0003 Diseasep.GLU114LYSGELEOPHYSIC DYSPLASIA 1
OMIM612277.0001 Diseasep.PRO147LEUGELEOPHYSIC DYSPLASIA 1
OMIM612277.0005 Diseasep.TRP862TERGELEOPHYSIC DYSPLASIA 1



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