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Results for the Protein: P02792
120523
FTL

FRIL_HUMAN RecName: Full=Ferritin light chain; Short=Ferritin L subunit

Known Diseases associated with this Protein:
  HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
  L-FERRITIN DEFICIENCY, AUTOSOMAL DOMINANT
  L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (NBIA3)
5
1
4
1
1
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Default View:

Ftn - COG1528
Euk_Ferritin - cd01056
Nonheme_Ferritin - cd01055
Ferritin - cd00904
Ferritin - pfam00210


Swiss-Prot Protein: P02792
Identical to: NP_000137
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ferritincd009045.5e-11110169
Nonheme_Ferritincd010558.2e-1110171
Euk_Ferritincd010561.6e-8110170
Ferritinpfam002101.2e-3514155

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026633Diseasep.ALA96THRNeurodegeneration with brain iron accumulation 3 (NBIA3)
dbSNPrs11553262 Polymorphismp.SER49ILEN/A
OMIM134790.0013 Diseasep.ALA96THRNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
OMIM134790.0019 Diseasep.GLU104TERL-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE
OMIM134790.0018 Diseasep.MET1VALL-FERRITIN DEFICIENCY, AUTOSOMAL DOMINANT
OMIM134790.0017 Diseasep.THR30ILEHYPERFERRITINEMIA WITH OR WITHOUT CATARACT



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