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Results for the Protein: Q9H1K1
313104118

ISCU_HUMAN RecName: Full=Iron-sulfur cluster assembly enzyme ISCU, mitochondrial; AltName: Full=NifU-like N-terminal domain-containing protein; AltName: Full=NifU-like protein; Flags: Precursor

Known Diseases associated with this Protein:
  MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY
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3
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Default View:

IscU - COG0822
NifU_N - pfam01592
IscU_like - cd06664


Swiss-Prot Protein: Q9H1K1
Identical to: NP_998760
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IscU_likecd066641.4e-5934149
NifU_Npfam015928.5e-7934160

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2287555 Polymorphismp.ALA12VALN/A
dbSNPrs10778648 Polymorphismp.PHE7CYSN/A
dbSNPrs10778647 Polymorphismp.PHE7VALN/A
OMIM611911.0002 Diseasep.GLY50GLUMYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY



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