UniProtKB/Swiss-Prot Q5UIP0: Variant p.Asn2021Tyr

Telomere-associated protein RIF1
Gene: RIF1
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Variant information Variant position:

2021 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 Asparagine (N) to Tyrosine (Y) at position 2021 (N2021Y, p.Asn2021Tyr). 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 polar (N) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs2444257 [ dbSNP | Ensembl ]

Sequence information Variant position:

2021 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2472 The length of the canonical sequence.
Location on the sequence:

GGNDVSDLHSSEETNTKMKN N EEMMIGEAMAETGHDGETEN 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                         GGNDVSDLHSSEETNTKMKNNEEMMIGEAMAETGHDGETEN

Mouse                         GESNESDSGSCEEMNKEMGSHKAQMSTEI-----DSARVKE

Chicken                       ---EVPEADGSKPETKQMDELEGN----------RDGKEEA

Drosophila                    -----------------------------------------

Baker's yeast                 SRNKNNDRMDSTPIQGTEEESR-------------------

Fission yeast                 -----------------------------------------

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 – 2472	Telomere-associated protein RIF1
Region	1924 – 2472	Interaction with condensed chromosomes in telophase
Region	1992 – 2021	Disordered

Literature citations
Human Rif1, ortholog of a yeast telomeric protein, is regulated by ATM and 53BP1 and functions in the S-phase checkpoint.
Silverman J.; Takai H.; Buonomo S.B.C.; Eisenhaber F.; De Lange T.;
Genes Dev. 18:2108-2119(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBCELLULAR LOCATION; VARIANTS TYR-2021 AND VAL-2418; Human Rif1 protein binds aberrant telomeres and aligns along anaphase midzone microtubules.
Xu L.; Blackburn E.H.;
J. Cell Biol. 167:819-830(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); SUBCELLULAR LOCATION; TISSUE SPECIFICITY; DEVELOPMENTAL STAGE; VARIANTS SER-836; MET-1362; TYR-2021 AND VAL-2418; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 35-853 AND 1728-2472 (ISOFORM 1); VARIANTS TYR-2021 AND VAL-2418;

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.