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PRO ID
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| PRO name | methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant MCCA D532H (human) |
| Synonyms | | PRO-Short-label: | EXACT: | hMCCC1/var:MCCA D532H |
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| Definition | "A methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human) that lacks the region encoded by exon 13 and shifts the reading frame due to the missense mutation D532H altering the splice site at the position equivalent to Asp-532 of the amino acid sequence represented by UniProtKB:Q96RQ3." [PMID:11181649, PRO:CNA, PRO:DAN] |
| Comment | Note: The mutation indicated also results in its removal after splicing. Thus, despite the designation used in the publication (D532H), there is no position 532 in the final protein. |
| PRO Category | organism-sequence |
| Parent | PR:000026110 methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial sequence variant (human)
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| Taxon | NCBITaxon:9606 Homo sapiens |
Term Hierarchy
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