Variant position: 52 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 382 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 VRVDRPGSRYDVSRLGRGKR SLVLDLKQPRGAAVLRRLCKR
Mouse VRVNRLGSTGE-NFLARGKR SLALDLKRSQGVTVLRRMCAR
Rat VLVDRLGSVNHPSHLARGKR SLALDLKRSPGAAVLRRMCAR
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
2 – 382 Alpha-methylacyl-CoA racemase
58 – 58 N6-acetyllysine
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
Ferdinandusse S.; Denis S.; Clayton P.T.; Graham A.; Rees J.E.; Allen J.T.; McLean B.N.; Brown A.Y.; Vreken P.; Waterham H.R.; Wanders R.J.A.;
Nat. Genet. 24:188-191(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT AMACRD PRO-52; VARIANT CBAS4 PRO-107; VARIANTS SER-201 AND LYS-277; CHARACTERIZATION OF VARIANT AMACRD PRO-52; CHARACTERIZATION OF VARIANT CBAS4 PRO-107;
Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy.
Setchell K.D.R.; Heubi J.E.; Bove K.E.; O'Connell N.C.; Brewsaugh T.; Steinberg S.J.; Moser A.; Squires R.H. Jr.;
Cited for: VARIANT CBAS4 PRO-52;
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