UniProtKB/Swiss-Prot P49959: Variant p.Arg572Gln

Double-strand break repair protein MRE11
Gene: MRE11
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Variant information Variant position:

572 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Arginine (R) to Glutamine (Q) at position 572 (R572Q, p.Arg572Gln). 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 large size and basic (R) to medium size and polar (Q) 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
Variant description:

In cancer. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs200085146 [ dbSNP | Ensembl ]

Sequence information Variant position:

572 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

708 The length of the canonical sequence.
Location on the sequence:

EQMANDSDDSISAATNKGRG R GRGRRGGRGQNSASRGGSQR 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         EQMANDSDDSISAATNKG------RGRGRGRRGGRGQNSASRGGSQR

Mouse                         EQTANDSDDSLSAVPSRG------RGRGRGRRGARGQSSAP

Rat                           EQTADDSDDSQSAVPSRG------RGRGRGRRGGRGQSTAP

Chicken                       MKASGDSDDDIPTTLSRG------RGRGRA-RGARGQNSAA

Xenopus laevis                KVSLSDDEDVRASMPARG------RGRGRA-RGGRGQSTTT

Caenorhabditis elegans        EDEVANSDEEMGSSISRHSKQPTTRGRGRGARGAGASRETT

Baker's yeast                 NREVRTGSPDITQSHVDN--------ESRITHISQAESSKP

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	2 – 708	Double-strand break repair protein MRE11
Region	556 – 614	Disordered

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.