UniProtKB/Swiss-Prot P49454: Variant p.Asn3106Lys

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 3106 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 Lysine (K) at position 3106 (N3106K, p.Asn3106Lys). 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 basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 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
Other resources: Links to websites of interest for the variant.

• Variant rs7289 [ dbSNP | Ensembl ]

Sequence information

Variant position: 3106 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3114 The length of the canonical sequence.
Location on the sequence: EGLRVKRGRLVPSPKAGLES N GSENCKVQ 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.
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 – 3111	Centromere protein F
Region	3024 – 3114	Disordered
Modified residue	3111 – 3111	Cysteine methyl ester
Lipidation	3111 – 3111	S-farnesyl cysteine

Literature citations

CENP-F is a protein of the nuclear matrix that assembles onto kinetochores at late G2 and is rapidly degraded after mitosis.
Liao H.; Winkfein R.J.; Mack G.; Rattner J.B.; Yen T.J.;
J. Cell Biol. 130:507-518(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; SUBCELLULAR LOCATION; DEVELOPMENTAL STAGE; VARIANTS LEU-250; GLY-272 AND LYS-3106; Characterization of a novel 350-kilodalton nuclear phosphoprotein that is specifically involved in mitotic-phase progression.
Zhu X.; Mancini M.A.; Chang K.-H.; Liu C.-Y.; Chen C.-F.; Shan B.; Jones D.; Yang-Feng T.L.; Lee W.-H.;
Mol. Cell. Biol. 15:5017-5029(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; INTERACTION WITH RB1; SUBCELLULAR LOCATION; VARIANT LYS-3106; A novel cell-cycle-dependent 350-kDa nuclear protein: C-terminal domain sufficient for nuclear localization.
Li Q.; Ke Y.; Kapp J.A.; Fertig N.; Medsger T.A. Jr.; Joshi H.C.;
Biochem. Biophys. Res. Commun. 212:220-228(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2098-3114; SUBCELLULAR LOCATION; NUCLEAR LOCALIZATION SIGNAL; VARIANT LYS-3106;