UniProtKB/Swiss-Prot O60934: Variant p.Val210Phe

Nibrin
Gene: NBN
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Variant information Variant position:

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

LB/B 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 Valine (V) to Phenylalanine (F) at position 210 (V210F, p.Val210Phe). 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 medium size and hydrophobic (V) to large size and aromatic (F) 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
Other resources:

Links to websites of interest for the variant.

Variant rs61754796 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

PPQIESFYPPLDEPSIGSKN V DLSGRQERKQIFKGKTFIFL 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                         PPQIESFYPPLDEPSIGSKNVDLSGRQERKQIFKGKTFIFL

Mouse                         PPDIESFYPPIDEPAIGSKSVDLSGRHERKQIFKGKTFVFL

Rat                           PPEIESFYPPIDEPAIGNKSVDLSGRRERKQIFKGKTFVFL

Chicken                       LPTPESFYPSVDEPAIGIDNMDLSGHPERKKIFSGKTFVFL

Xenopus laevis                LPDYRSFIPSVDEPSLTPESLDLSENVKRKSIFKDKVFLFL

Zebrafish                     LPKAERFRPQIDEPSLARDDVDLSARPERKSLFKGKTFLFL

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	1 – 754	Nibrin
Region	111 – 328	Mediates interaction with SP100

Literature citations
Mutations in the Nijmegen breakage syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).
Varon R.; Reis A.; Henze G.; von Einsiedel H.G.; Sperling K.; Seeger K.;
Cancer Res. 61:3570-3572(2001)
Cited for: VARIANTS LEU-93; ASN-95; VAL-171; PHE-210 AND TRP-215; POSSIBLE INVOLVEMENT IN CHILDHOOD ACUTE LYMPHOBLASTIC LEUKEMIA;

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.