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PRO ID
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| PRO name | methylcrotonoyl-CoA carboxylase beta chain, mitochondrial sequence variant MCCB I437V (human) |
| Synonyms | | PRO-Short-label: | EXACT: | hMCCC2/var:MCCB I437V |
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| 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)
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| Taxon | NCBITaxon:9606 Homo sapiens |
Term Hierarchy
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