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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HCC0: Variant p.Gln393Pro

Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
Gene: MCCC2
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Variant information Variant position: help 393
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamine (Q) to Proline (P) at position 393 (Q393P, p.Gln393Pro).
Physico-chemical properties: help Change from medium size and polar (Q) to medium size and hydrophobic (P)
BLOSUM score: help -1
Variant description: help In MCC2D.
Other resources: help


Sequence information Variant position: help 393
Protein sequence length: help 563
Location on the sequence: help NGVLFSESAKKGTHFVQLCC Q RNIPLLFLQNITGFMVGREY
Residue conservation: help 
Human                         NGVLFSESAKKGTHFVQLCCQRNIPLLFLQNITGFMVGREY

Mouse                         NGVLFSESAKKGAHFVQLCCQRNIPLLFLQNITGFMVGRDY

Rat                           NGVLFSESAKKGAHFVQLCCQRNIPLLFLQNITGFMVGKDY

Caenorhabditis elegans        NGVLFAESAMKGSHFIELCCQRKIPLLFLQNITGFMVGRDA

Drosophila                    NGVLFSESALKGAHFIQLCAQRKIPLVFLQNITGFMVGRDA

Slime mold                    NGILFSESAVKGAHFIELCNQRGIPLVFLQNITGFMVGKTY
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 23 – 563 Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
Domain 309 – 555 CoA carboxyltransferase C-terminal
Region 49 – 555 Carboxyltransferase
Helix 378 – 394



Literature citations
3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.
Fonseca H.; Azevedo L.; Serrano C.; Sousa C.; Marcao A.; Vilarinho L.;
Gene 594:203-210(2016)
Cited for: VARIANTS MCC2D VAL-68; ARG-105; TRP-155; ASP-163; ASN-200; ALA-214; TRP-216; THR-218; ASP-230; CYS-318; MET-339; VAL-387; PRO-393; ARG-410; ASP-410; THR-441; VAL-461; ARG-475 AND THR-524;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.