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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 Compact View   

Category  
PRO ID
Name
Short Name
Definition
Ann. Has Annotation?

comp. In Complex?
organism-sequence


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

organism-sequence


PR:000026118
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB S173L (human)
hMCCC2/var:MCCB S173L
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Leu residue at the position equivalent to Ser-173 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Ser-173, CHEBI:30006." [PMID:11181649, PRO:CNA]
Yes
organism-sequence


PR:000026119
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB E99Q (human)
hMCCC2/var:MCCB E99Q
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Gln residue at the position equivalent to Glu-99 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Glu-99, CHEBI:30011." [PMID:11181649, PRO:CNA]
Yes
organism-sequence


PR:000026120
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB V339M (human)
hMCCC2/var:MCCB V339M
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that has a Met residue at the position equivalent to Val-339 of the amino acid sequence represented by UniProtKB:Q9HCC0-1. Example: UniProtKB:Q9HCC0-1, Val-339, CHEBI:16044." [PMID:11181649, PRO:CNA]
Yes
organism-sequence


PR:000026121
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB I437V (human)
hMCCC2/var:MCCB I437V
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that lacks the region encoded by the last 64 bp in exon 14 due to the missense mutation I437V introducing a splice site at the position equivalent to Ile-437 of the amino acid sequence represented by UniProtKB:Q9HCC0-1." [PMID:11181649, PRO:CNA]
Yes
organism-sequence


PR:000026122
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant D172fs (human)
hMCCC2/var:D172fs
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that is a truncated variant due to a frameshift caused by nucleotide insertion. The sequence in this variant is truncated after residue Asp-172 of the amino acid sequence represented by UniProtKB:Q9HCC0. UniProtKB:Q9HCC0, 1-172." [PMID:11170888, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000026123
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB IVS3+5G->T (human)
hMCCC2/var:MCCB IVS3+5G->T
"A methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) that results from a nucleotide change leading to skipping of exon 3, frameshift, and early truncation of the amino acid sequence represented by UniProtKB:Q9HCC0-1." [PMID:11170888, PRO:CNA]
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