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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49959: Variant p.Arg503His

Double-strand break repair protein MRE11
Gene: MRE11
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Variant information Variant position: help 503 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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: help From Arginine (R) to Histidine (H) at position 503 (R503H, p.Arg503His). 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: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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

Variant description: help In cancer. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 503 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 708 The length of the canonical sequence.
Location on the sequence: help RFLKERHIDALEDKIDEEVR R FRETRQKNTNEEDDEVREAM 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         RFLKERHIDALEDKIDEEVRRFRETRQKNTNEEDDEVREAM

Mouse                         RFLKERHIDALEDKIDEEVRRFRESRQRNTNEEDDEVREAM

Rat                           RFLKERHIDALEDKIDEEVRRFRESRQRNTNEEDDEVREAM

Chicken                       RFLKERHIDAEEEKIDEEVRKFRESRRKNTEEEDEEVREAM

Xenopus laevis                RFLKERHIDAEEEKIDEEVRKFRETRKTNTNEEDEEVREAI

Caenorhabditis elegans        KTLKKMPLPPINDPSD--LDKFRDLITKDLYDMKKADSERF

Baker's yeast                 GILSTNE----------------EFLRTDDAEEMKALIKQV

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 708 Double-strand break repair protein MRE11



Literature citations
Alterations of the double-strand break repair gene MRE11 in cancer.
Fukuda T.; Sumiyoshi T.; Takahashi M.; Kataoka T.; Asahara T.; Inui H.; Watatani M.; Yasutomi M.; Kamada N.; Miyagawa K.;
Cancer Res. 61:23-26(2001)
Cited for: VARIANTS CANCER CYS-104; HIS-503 AND GLN-572;
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.