Variant position: 201 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 DANMVEGTAYLSSFLWKTQK LSLWEAPRGQNMLDGGAPFYT
Mouse DSSMVEGTAYLSSFLWKTQP MGLWKQPRGQNILDGGAPFYT
Rat DANMVEGTAYLSTFLWKTQA MGLWAQPRGQNLLDGGAPFYT
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
1 – 382 Alpha-methylacyl-CoA racemase
132 – 229 VLSKIGRSGENPYAPLNLLADFAGGGLMCALGIIMALFDRTRTGKGQVIDANMVEGTAYLSSFLWKTQKLSLWEAPRGQNMLDGGAPFYTTYRTADGE -> GRNSIFKFFSVENSEIESVGSTSRTEHVGWWSTFLYDLQDSRWGIHGCWSNRTPVLRAADQRSLIPYFNLYLQFLNISMQNLFKVHTLLRPCYFLGQK. In isoform 2.
199 – 382 Missing. In isoform 3.
Mitochondrial and peroxisomal targeting of 2-methylacyl-CoA racemase in humans.
Amery L.; Fransen M.; De Nys K.; Mannaerts G.P.; Van Veldhoven P.P.;
J. Lipid Res. 41:1752-1759(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ASP-175; SER-201; THR-261 AND LYS-277; SUBCELLULAR LOCATION; MICROBODY TARGETING;
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;
A variant of the alpha-methyl-acyl-CoA racemase gene created by a deletion in exon 5 and its expression in prostate cancer.
Mubiru J.N.; Valente A.J.; Troyer D.A.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4); VARIANTS SER-201 AND LYS-277;
Human alpha-methylacyl-CoA racemase cDNA sequence.
Albers C.; Schmitz W.; Conzelmann E.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS MET-9; ASP-175; SER-201; THR-261 AND LYS-277;
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.