Variant position: 152 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:
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 MIIANDATVKGGAYYPVTVK KQLRAQEIAMQNRLPCIYLVD
Mouse MIVANDATVKGGTYYPVTVK KHVRAQEIALQNRLPCIYLVD
Rat MIVANDATVKGGTYYPVTVK KHVRAQEIALQNRLPCIYLVD
Caenorhabditis elegans VIVANDATVKGGTYYPITVK KHLRAQEIARENKLPCIYLVD
Drosophila LVVANDATVKGGSYYPITVK KHLRAQEIAQENRLPCIYLVD
Slime mold VIVANDSTVKGGTYFPITVK KHLRAQEIAQENNLPCIYLVD
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
23 – 563 Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial
49 – 306 CoA carboxyltransferase N-terminal
49 – 555 Carboxyltransferase
141 – 141 N6-succinyllysine
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Gruenert S.C.; Stucki M.; Morscher R.J.; Suormala T.; Buerer C.; Burda P.; Christensen E.; Ficicioglu C.; Herwig J.; Koelker S.; Moeslinger D.; Pasquini E.; Santer R.; Schwab K.O.; Wilcken B.; Fowler B.; Yue W.W.; Baumgartner M.R.;
Orphanet J. Rare Dis. 7:31-54(2012)
Cited for: VARIANTS MCC2D PHE-39; GLN-99; PHE-101; GLY-118 DEL; PHE-131; ASN-146; THR-152; TRP-155; ARG-167; ASP-169; LEU-173; ARG-190; TYR-190; CYS-193; HIS-193; ASN-200; THR-218; VAL-218; GLU-220; LEU-224; ASP-237; LEU-266; TYR-280; ARG-282; ARG-310; MET-339; VAL-340 ARG-352; PHE-355; PHE-375; THR-403; LEU-434; VAL-456; ARG-475; ARG-477; ARG-517; SER-520; GLY-523 AND GLU-555; CHARACTERIZATION OF VARIANTS MCC2D PHE-39; GLY-118 DEL; ASN-146; ARG-282; LEU-434; VAL-456; ARG-475 AND GLY-523;
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