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Protein Ontology report - methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
PR:000026117 - http://purl.obolibrary.org/obo/PR_000026117
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / GPI
  PRO ID
PR:000026117   
  PRO namemethylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) 
  Synonyms
PRO-Short-label: EXACT:hMCCC2/var+
  Definition"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human) that has at least one amino acid residue that differs from the corresponding residue found in another methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human) when such a difference arises as the result of genetic differences, i.e., different alleles of methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human). Operationally, this means the sequence representation of the methylcrotonoyl-CoA carboxylase beta chain, mitochondrial(human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represented by UniProtKB:Q9HCC0-1." [PRO:CNA] 
  PRO Categoryorganism-sequence 
  ParentPR:Q9HCC0 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Sequence0                                                  Organism-Sequence 7                                        
         Modification0                                                  Organism-Modification 0                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

comp. In Complex?
organism-sequence


PR:000026117 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human)
hMCCC2/var+

organism-sequence


PR:000026118 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB S173L (human)
hMCCC2/var:MCCB S173L
Yes
organism-sequence


PR:000026119 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB E99Q (human)
hMCCC2/var:MCCB E99Q
Yes
organism-sequence


PR:000026120 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB V339M (human)
hMCCC2/var:MCCB V339M
Yes
organism-sequence


PR:000026121 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB I437V (human)
hMCCC2/var:MCCB I437V
Yes
organism-sequence


PR:000026122 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant D172fs (human)
hMCCC2/var:D172fs
Yes
organism-sequence


PR:000026123 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB IVS3+5G->T (human)
hMCCC2/var:MCCB IVS3+5G->T
Yes
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Functional Annotation (GO-centric view) Switch to PRO Centric View     

Disease Associated GO Term
Protein Forms & Complexes
Evidence
DO:0050710 3-methylcrotonyl-CoA carboxylase deficiencyPR:000026118 hMCCC2/var:MCCB S173L PMID:11181649
PR:000026119 hMCCC2/var:MCCB E99Q PMID:11181649
PR:000026120 hMCCC2/var:MCCB V339M PMID:11181649
PR:000026121 hMCCC2/var:MCCB I437V PMID:11181649
PR:000026122 hMCCC2/var:D172fs PMID:11170888
PR:000026123 hMCCC2/var:MCCB IVS3+5G->T PMID:11170888

Cellular Location GO Term
Protein Forms & Complexes
Evidence
SO:0001569 cryptic_splice_site_variantPR:000026121 hMCCC2/var:MCCB I437V PMID:11181649