| PRO ID |
PR:000026121
Show OBO stanza
/ PAF
/ GPI
|
| PRO name |
methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB I437V (human) |
| Synonyms |
| PRO-short-label: |
EXACT: |
hMCCC2/var:MCCB I437V |
|
| Definition |
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]
|
| Comment |
Cannot map to UniProtKB_VAR:VAR_012801 because the sequence shows only amino acid change, while the rest of the sequence remains the same. |
| PRO Category |
organism-sequence |
| Parent |
PR:000026117 methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant (human) |
| Taxon |
NCBITaxon:9606 Homo sapiens |
| Term Hierarchy Visualization |
 DAG
 OLS
Cytoscape
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