Sequence information
Variant position: 68 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 563 The length of the canonical sequence.
Location on the sequence:
QMKALVNQLHERVEHIKLGG
G EKARALHISRGKLLPRERID
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human QMKALVNQLHERVEHIKLGGG EKARALHISRGKLLPRERID
Mouse QMKALVSQLHERAQYVRLGGS EKARARHTSRGKLLPRDRID
Rat QMKALVNQLHERAQYVRLGGS EKARARHTSRGKLLPRDRID
Caenorhabditis elegans EMKVLVEDLKAKISKIEQAGG EKAVKLHRSRGKMLARERID
Drosophila EMASLVGDLRNFTSQVLKGGG QKAIERHTSRGKLLARERIN
Slime mold NMNSTLKQLKENIEKIKLGGG EKLNQKNISRGKLLVRERIE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
23 – 563
Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
Domain
49 – 306
CoA carboxyltransferase N-terminal
Region
49 – 555
Carboxyltransferase
Modified residue
70 – 70
N6-acetyllysine; alternate
Modified residue
70 – 70
N6-succinyllysine; alternate
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.