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Results for the Protein: Q8IVH4
38258173

MMAA_HUMAN RecName: Full=Methylmalonic aciduria type A protein, mitochondrial; Flags: Precursor

Known Diseases associated with this Protein:
  METHYLMALONIC ACIDURIA TYPE CBLA (MMAA)
  METHYLMALONIC ACIDURIA, CBLA TYPE
9
1
3
1
6
Tips:
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Default View:

ArgK - COG1703
ArgK - pfam03308
HypB - COG0378
cobW - pfam02492
Fer4_NifH - cd01983
ArgK-like - cd03114


Swiss-Prot Protein: Q8IVH4
Identical to: NP_758454
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ArgKCOG17031.4e-13283416
HypBCOG03783.5e-05130352
Fer4_NifHcd019836.8e-07145289
ArgK-likecd031142.5e-81145292
ArgKpfam033085.9e-129101384
cobWpfam024920.00012144328

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_020836Diseasep.ARG145GLNMethylmalonic aciduria type cblA (MMAA)
Swiss-ProtVAR_020838Diseasep.ARG359GLNMethylmalonic aciduria type cblA (MMAA)
Swiss-ProtVAR_038804Diseasep.ARG359GLYMethylmalonic aciduria type cblA (MMAA)
dbSNPrs2270655 Polymorphismp.GLN363HISN/A
Swiss-ProtVAR_020837Diseasep.GLY218GLUMethylmalonic aciduria type cblA (MMAA)
Swiss-ProtVAR_020835Diseasep.LEU89PROMethylmalonic aciduria type cblA (MMAA)
Swiss-ProtVAR_017202Diseasep.TYR207CYSMethylmalonic aciduria type cblA (MMAA)
OMIM607481.0005 Diseasep.ARG145TERMETHYLMALONIC ACIDURIA, cblA TYPE
OMIM607481.0003 Diseasep.GLN95TERMETHYLMALONIC ACIDURIA, cblA TYPE
OMIM607481.0004 Diseasep.TYR207CYSMETHYLMALONIC ACIDURIA, cblA TYPE



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