UniProtKB/Swiss-Prot P22061 : Variant p.Val120Ile
Protein-L-isoaspartate(D-aspartate) O-methyltransferase
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Variant information
Variant position:
120
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
The 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:
120 (V120I, p.Val120Ile).
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:
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
The 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).following page
Polymorphism:
Additional information on the polymorphism described.
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
120
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
227
The length of the canonical sequence.
Location on the sequence:
V NNVRKDDPTLLSSGRVQLVV
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 VGCTG-----KVIGIDHIKELVDDSV NNVRKD---DPTLLS---SGRVQLVV
Mouse VGNSG-----KVIGIDHIKELVDDSI TNVKKD---DPMLLS
Rat VGHSG-----KVIGIDHIKELVDDSI TNVKKD---DPMLLS
Pig VGPSG-----KVIGIDHIKELVDDSI NNVRKD---DPMLLS
Bovine VGPSG-----KVIGIDHIKELVDDSI NNVRKD---DPMLLS
Chicken VGPKG-----QVVGIDHIKELVDDSI NNVKKD---DPTLLS
Zebrafish VGPTG-----KVIGIDHIKELVEDSI ANVKKD---DPSLIT
Caenorhabditis elegans VGRNG-----TVVGIEHMPQLVELSE KNIRKH---HSEQLE
Drosophila IKAKGVDADTRIVGIEHQAELVRRSK ANLNTD---DRSMLD
Slime mold MGCTG-----RVIGVEHIPELIERSI ESIKRL---DSTLLD
Fission yeast VAPNG-----TVKGIEHIPQLVETSK KNLLKDINHDEVLME
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
2 – 227 Protein-L-isoaspartate(D-aspartate) O-methyltransferase
Helix
113 – 126
Literature citations
Alternative splicing of the human isoaspartyl protein carboxyl methyltransferase RNA leads to the generation of a C-terminal -RDEL sequence in isozyme II.
Maclaren D.C.; Kagan R.M.; Clarke S.;
Biochem. Biophys. Res. Commun. 185:277-283(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); VARIANT ILE-120;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANT ILE-120;
Submission
Lubec G.; Afjehi-Sadat L.; Chen W.-Q.; Sun Y.;
Cited for: PROTEIN SEQUENCE OF 5-18; 25-37; 82-98; 114-144 AND 179-221; VARIANT ILE-120; IDENTIFICATION BY MASS SPECTROMETRY;
Distinct C-terminal sequences of isozymes I and II of the human erythrocyte L-isoaspartyl/D-aspartyl protein methyltransferase.
Ingrosso D.; Kagan R.M.; Clarke S.;
Biochem. Biophys. Res. Commun. 175:351-358(1991)
Cited for: PARTIAL PROTEIN SEQUENCE (ISOFORM 2); VARIANT ILE-120;
Polymorphic forms of the protein L-isoaspartate (D-aspartate) O-methyltransferase involved in the repair of age-damaged proteins.
DeVry C.G.; Clarke S.;
J. Hum. Genet. 44:275-288(1999)
Cited for: VARIANT ILE-120;
Initial characterization of the human central proteome.
Burkard T.R.; Planyavsky M.; Kaupe I.; Breitwieser F.P.; Buerckstuemmer T.; Bennett K.L.; Superti-Furga G.; Colinge J.;
BMC Syst. Biol. 5:17-17(2011)
Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-120; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];
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.
