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Results for the Protein: P78386
48474780

KRT85_HUMAN RecName: Full=Keratin, type II cuticular Hb5; AltName: Full=Hair keratin K2.12; AltName: Full=Keratin-85; Short=K85; AltName: Full=Type II hair keratin Hb5; AltName: Full=Type-II keratin Kb25

Known Diseases associated with this Protein:
  ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
  ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE (ECTD4)
2
2
1
2
1
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Filament - pfam00038


Swiss-Prot Protein: P78386
Identical to: NP_002274
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Filamentpfam000383.5e-131122433

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs61630004 Diseasep.ARG78HISEctodermal dysplasia 4, hair/nail type (ECTD4)
dbSNPrs61740813 Polymorphismp.CYS234GLYN/A
Swiss-ProtVAR_049804Polymorphismp.TRP155LEUN/A
OMIM602767.0001 Diseasep.ARG78HISECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE



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