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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14676: Variant p.Glu1509Asp

Mediator of DNA damage checkpoint protein 1
Gene: MDC1
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Variant information Variant position: help 1509
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Aspartate (D) at position 1509 (E1509D, p.Glu1509Asp).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and acidic.
BLOSUM score: help 2
Other resources: help


Sequence information Variant position: help 1509
Protein sequence length: help 2089
Location on the sequence: help VVPTAPELQASASTDQPVTS E PTSRTTRGRKNRSSVKTPET
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2089 Mediator of DNA damage checkpoint protein 1
Region 780 – 1887 Disordered
Region 1148 – 1610 Interaction with the PRKDC complex
Compositional bias 1498 – 1514 Polar residues
Alternative sequence 1029 – 1787 Missing. In isoform 4.



Literature citations
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; Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity.
Shiina T.; Ota M.; Shimizu S.; Katsuyama Y.; Hashimoto N.; Takasu M.; Anzai T.; Kulski J.K.; Kikkawa E.; Naruse T.; Kimura N.; Yanagiya K.; Watanabe A.; Hosomichi K.; Kohara S.; Iwamoto C.; Umehara Y.; Meyer A.; Wanner V.; Sano K.; Macquin C.; Ikeo K.; Tokunaga K.; Gojobori T.; Inoko H.; Bahram S.;
Genetics 173:1555-1570(2006)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS LYS-371; LEU-386; PRO-1180; ASP-1509 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.