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Results for the Protein: Q86VV8
296452975

RTTN_HUMAN RecName: Full=Rotatin

Known Diseases associated with this Protein:
  POLYMICROGYRIA WITH SEIZURES
  POLYMICROGYRIA WITH SEIZURES (PMGYS)
4
4
2
3
3
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Swiss-Prot Protein: Q86VV8
Identical to: NP_775901
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069094Diseasep.CYS27TYRPolymicrogyria with seizures (PMGYS)
Swiss-ProtVAR_036850Polymorphismp.HIS1742ARGN/A
Swiss-ProtVAR_069095Diseasep.LEU932PHEPolymicrogyria with seizures (PMGYS)
dbSNPrs17082206 Polymorphismp.LYS245ARGN/A
dbSNPrs4891392 Polymorphismp.PHE1761SERN/A
dbSNPrs3911730 Polymorphismp.SER126ALAN/A
OMIM610436.0002 Diseasep.CYS27TYRPOLYMICROGYRIA WITH SEIZURES
OMIM610436.0001 Diseasep.LEU932PHEPOLYMICROGYRIA WITH SEIZURES



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