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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 name
methylcrotonoyl-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 Category
organism-sequence
Parent
PR:Q9HCC0
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (human)
Taxon
NCBITaxon:9606
Homo sapiens
Terms by PRO Category
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Sequence
0
Organism-Sequence
7
Modification
0
Organism-Modification
0
Term Hierarchy
Visualization
DAG:
OLS:
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Protein Forms
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Extended View
Category
PRO Form 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 (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000026118
hMCCC2/var:MCCB S173L
UniProtKB:Q9HCC0, Ser-173, CHEBI:30006 | UniProtKB:Q9HCC0-1, Ser-173, CHEBI:30006
"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]
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11181649
PR:000026119
hMCCC2/var:MCCB E99Q
UniProtKB:Q9HCC0, Glu-99, CHEBI:30011 | UniProtKB:Q9HCC0-1, Glu-99, CHEBI:30011
"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]
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11181649
PR:000026120
hMCCC2/var:MCCB V339M
UniProtKB:Q9HCC0, Val-339, CHEBI:16044 | UniProtKB:Q9HCC0-1, Val-339, CHEBI:16044
"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]
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11181649
PR:000026121
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]
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11181649
located_in
SO:0001569
cryptic_splice_site_variant
PMID:11181649
PR:000026122
hMCCC2/var:D172fs
UniProtKB:Q9HCC0, 1-172 | UniProtKB:Q9HCC0-1, 1-172 | MCC beta D172fs (human) | MCCB D172fs (human)
"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]
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11170888
PR:000026123
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]
associated_with_disease_progression
DO:0050710
3-methylcrotonyl-CoA carboxylase deficiency
PMID:11170888
