Due to scheduled maintenance work, this service will not be available from Tuesday August 23rd 06:00 pm until Wednesday August 24th 08:00 am
CEST . Apologies for the inconvenience.
UniProtKB/Swiss-Prot P11310 : Variant p.Pro132Arg
Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
Gene: ACADM
Variant information
Variant position: 132 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: USThe variants are classified into three categories: LP/P, LB/B and US.LP/P: likely pathogenic or pathogenic. LB/B: likely benign or benign. US: uncertain significance
Residue change: From Proline (P) to Arginine (R) at position 132 (P132R, p.Pro132Arg).Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: Change from medium size and hydrophobic (P) to large size and basic (R)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -2The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another: Lowest score: -4 (low probability of substitution).Highest score: 11 (high probability of substitution). More information can be found on the following page
Variant description: In a breast cancer sample; somatic mutation.Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 132 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 421 The length of the canonical sequence.
Location on the sequence:
LAYGCTGVQTAIEGNSLGQM
P IIIAGNDQQKKKYLGRMTEE
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 LAYGCTGVQTAIEGNSLGQMP IIIAGNDQQKKKYLGRMTEE
Chimpanzee LAYGCTGVQTAIEGNSLGQMP IIIAGNDQQKKKYLGRMTEE
Mouse LAYGCTGVQTAIEANSLGQMP VILAGNDQQKKKYLGRMTEQ
Rat LAYGCTGVQTAIEANSLGQMP VIIAGNDQQKKKYLGRMTEQ
Pig LAYGCTGVQTAIEANTLGQVP LIIGGNYQQQKKYLGRMTEE
Bovine LAYGCTGVQTAIEANSLGQMP VIIAGNDQQQKKYLGRMTEE
Caenorhabditis elegans LSYGCTGIQLGIMGPSLAIAP VYISGNEEQKKKYLGALAAE
Drosophila LAYGCTGIMTALEASGLGQTP VILSGNKEQKKKYLGRLLEE
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
26 – 421
Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
Helix
117 – 136
Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANT [LARGE SCALE ANALYSIS] ARG-132;
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.