UniProtKB/Swiss-Prot Q14676 : Variant p.Ser1540Pro
Mediator of DNA damage checkpoint protein 1
Gene: MDC1
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Variant information
Variant position:
1540
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LB/B
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:
From Serine (S) to Proline (P) at position 1540 (S1540P, p.Ser1540Pro).
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 small size and polar (S) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:
-1
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). More information can be found on the following page
Other resources:
Links to websites of interest for the variant.
Sequence information
Variant position:
1540
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
2089
The length of the canonical sequence.
Location on the sequence:
NRSSVKTPETVVPAAPELQP
S TSTDQPVTPEPTSRATRGRT
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.
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
1 – 2089
Mediator of DNA damage checkpoint protein 1
Region
780 – 1887
Disordered
Region
1148 – 1610
Interaction with the PRKDC complex
Compositional bias
1535 – 1568
Polar residues
Modified residue
1548 – 1548
Phosphothreonine
Alternative sequence
1029 – 1787
Missing. In isoform 4.
Literature citations
Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.
Nagase T.; Seki N.; Ishikawa K.; Tanaka A.; Nomura N.;
DNA Res. 3:17-24(1996)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS MET-536; PRO-1540 AND ARG-1545;
Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.
Shiina S.; Tamiya G.; Oka A.; Inoko H.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS LYS-251; ALA-586; ASP-1509; PRO-1540 AND ARG-1545;
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] (ISOFORM 3); NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 279-2089 (ISOFORM 4); VARIANTS MET-536; PRO-1540 AND ARG-1545;
A quantitative atlas of mitotic phosphorylation.
Dephoure N.; Zhou C.; Villen J.; Beausoleil S.A.; Bakalarski C.E.; Elledge S.J.; Gygi S.P.;
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-299; THR-301; SER-394; SER-397; SER-402; THR-404; THR-449; SER-453; THR-455; SER-495; SER-498; SER-513; SER-780; SER-793; SER-1033; SER-1068; THR-1198; SER-1399; SER-1400; THR-1403; THR-1425; THR-1466; THR-1548; THR-1589; SER-1604; THR-1630; THR-1664; THR-1671; SER-1681; THR-1697; SER-1702; SER-1711; SER-1775 AND THR-1858; VARIANT [LARGE SCALE ANALYSIS] PRO-1540; 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.