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Results for the Protein: NP_001121134
189083772
GSN

gelsolin isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  AMYLOIDOSIS, FAMILIAL, FINNISH TYPE
  AMYLOIDOSIS, MERETOJA TYPE
2
3
2
3
0
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Default View:

GEL - smart00262




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GELsmart002621.6e-31137226
GELsmart002624.6e-31251345
GELsmart002628.1e-34397491
GELsmart002629.2e-22515597
GELsmart002623.1e-31620712

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2230287 Polymorphismp.ALA78THRN/A
dbSNPrs115224458 Polymorphismp.LYS10ARGN/A
dbSNPrs76463933 Polymorphismp.THR565METN/A
OMIM137350.0001 Diseasep.ASP136ASNAMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE
OMIM137350.0002 Diseasep.ASP136TYRAMYLOIDOSIS, FAMILIAL, FINNISH TYPE



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