Home News About DMDM Database Statistics Research Publications Contact  

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
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



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 ↕
FtnCOG15286.3e-088175
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



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258