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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49959: Variant p.Asn117Ser

Double-strand break repair protein MRE11
Gene: MRE11
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Variant information Variant position: help 117 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Asparagine (N) to Serine (S) at position 117 (N117S, p.Asn117Ser). 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 medium size and polar (N) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In ATLD1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 117 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 QSVNFGFSKFPWVNYQDGNL N ISIPVFSIHGNHDDPTGADA 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                         QSVNFGFSKFPWVNYQDGNLNISIPVFSIHGNHDDPTGADA

Mouse                         QSVNFGFSKFPWVNYQDGNLNISIPVFSIHGNHDDPTGADA

Rat                           QSVNFGFSKFPWVNYRDGNLNISIPVFSIHGNHDDPTGADA

Chicken                       QAVNFQLSKFPWVNYQDENLNIFMPIFSIHGNHDDPTGVDA

Xenopus laevis                QSVNFGYSKFPWVNYQDNNLNISLPVFSVHGNHDDPTGADA

Caenorhabditis elegans        ASVNFNQSVFGHVNYYDQNLNVGLPIFTIHGNHDDLSG-KG

Baker's yeast                 PSQVFHYDEFTNVNYEDPNFNISIPVFGISGNHDDASGDSL
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
Region 87 – 117 Interaction with NBN
Active site 129 – 129 Proton donor
Binding site 128 – 128
Mutagenesis 87 – 117 Missing. Abolished interaction with NBN.
Mutagenesis 117 – 117 N -> L. Abolished interaction with NBN.
Mutagenesis 121 – 121 P -> G. Abolished interaction with NBN.



Literature citations
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
Stewart G.S.; Maser R.S.; Stankovic T.; Bressan D.A.; Kaplan M.I.; Jaspers N.G.J.; Raams A.; Byrd P.J.; Petrini J.H.J.; Taylor A.M.R.;
Cell 99:577-587(1999)
Cited for: VARIANTS ATLD1 SER-117 AND 633-ARG--ARG-708 DEL; MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
Delia D.; Piane M.; Buscemi G.; Savio C.; Palmeri S.; Lulli P.; Carlessi L.; Fontanella E.; Chessa L.;
Hum. Mol. Genet. 13:2155-2163(2004)
Cited for: VARIANTS ATLD1 SER-117; LYS-481; 572-ARG--ARG-708 DEL AND 633-ARG--ARG-708 DEL;
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.