UniProtKB/Swiss-Prot Q14686: Variant p.Asn955Ser

Nuclear receptor coactivator 6
Gene: NCOA6
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Variant information Variant position:

955 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 Serine (S) at position 955 (N955S, p.Asn955Ser). 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 small size and polar (S) 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 rs17092079 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

2063 The length of the canonical sequence.
Location on the sequence:

TRPAGLEEADQPPLPGEQGI N LDNSGPKLPEFSNRPPGYPS 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                         TRPAGLEEADQPPLPGEQGINLDNSGPKLPEFSNRPPGYPS

Mouse                         NRPTGLEEVDQQSLPGEQGINLDTTGPKLPDFSNRPPGYPT

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 – 2063	Nuclear receptor coactivator 6
Region	1 – 1310	NCOA1-binding region
Region	1 – 1057	CREBBP-binding region
Region	899 – 1278	Disordered

Literature citations
A nuclear factor ASC-2, as a cancer-amplified transcriptional coactivator essential for ligand-dependent transactivation by nuclear receptors in vivo.
Lee S.-K.; Anzick S.L.; Choi J.-E.; Bubendorf L.; Guan X.-Y.; Jung Y.-K.; Kallioniemi O.-P.; Kononen J.; Trent J.M.; Azorsa D.; Jhun B.-H.; Cheong J.H.; Lee Y.C.; Meltzer P.S.; Lee J.W.;
J. Biol. Chem. 274:34283-34293(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; INTERACTION WITH CREBBP; NCOA1; GTF2A; TBP; RXRA; ESR1; RARA AND THRA; VARIANT SER-955; A new family of nuclear receptor coregulators that integrates nuclear receptor signaling through CBP.
Mahajan M.A.; Samuels H.H.;
Mol. Cell. Biol. 20:5048-5063(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; HOMODIMERIZATION; INTERACTION WITH CREBBP; RXRA; ESR1; NR3C1; RARA; VDR AND THRA; VARIANT SER-955; Cloning and characterization of RAP250, a nuclear receptor coactivator.
Caira F.; Antonson P.; Pelto-Huikko M.; Treuter E.; Gustafsson J.-A.;
J. Biol. Chem. 275:5308-5317(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; INTERACTION WITH PPARA; PPARG; ESR1; ESR2 AND THR; VARIANT SER-955; Thyroid hormone receptor-binding protein, an LXXLL motif-containing protein, functions as a general coactivator.
Ko L.; Cardona G.R.; Chin W.W.;
Proc. Natl. Acad. Sci. U.S.A. 97:6212-6217(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PHOSPHORYLATION BY PRKDC; INTERACTION WITH THR; RAR; EP300 AND CRSP3; VARIANT SER-955; Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1.
Nagase T.; Seki N.; Ishikawa K.; Tanaka A.; Nomura N.;
DNA Res. 3:17-24(1996)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT SER-955;

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.