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UniProtKB/Swiss-Prot Q14676: Variant p.Ile536Met

Mediator of DNA damage checkpoint protein 1
Gene: MDC1
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Variant information Variant position: help 536
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Methionine (M) at position 536 (I536M, p.Ile536Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 536
Protein sequence length: help 2089
Location on the sequence: help STTVDINTQVEKEVPPGSAI I HIKKHQVSVEGTNQTDVKAV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2089 Mediator of DNA damage checkpoint protein 1
Region 145 – 568 Required for nuclear localization (NLS1)
Modified residue 523 – 523 Phosphothreonine



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; 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;
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.