UniProtKB/Swiss-Prot Q14978: Variant p.Ser456Pro

Nucleolar and coiled-body phosphoprotein 1
Gene: NOLC1
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Variant information Variant position:

456 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 Serine (S) to Proline (P) at position 456 (S456P, p.Ser456Pro). 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 small size and polar (S) to medium size and hydrophobic (P) 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 rs1049455 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

EKTKKMVATTKPKATAKAAL S LPAKQAPQGSRDSSSDSDSS 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                         EKTKKMVATTKP-----------------------KATAKAALSLPAKQAPQGSRDSSSD---------------------SDSS

Mouse                         EASKKSATTPKA-----------------------KVTAKA

Rat                           EATKKSVTTPKA-----------------------RVTAKA

Caenorhabditis elegans        APAKKTPVKPTPVKIVAKKVDSSSDSSDDEKKPTKATPVKV

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 – 699	Nucleolar and coiled-body phosphoprotein 1
Region	65 – 637	Disordered
Region	84 – 566	11 X 12 AA approximate repeats of an acidic serine cluster
Modified residue	456 – 456	Phosphoserine
Cross	440 – 440	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross	452 – 452	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)

Literature citations
Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1.
Nomura N.; Miyajima N.; Sazuka T.; Tanaka A.; Kawarabayasi Y.; Sato S.; Nagase T.; Seki N.; Ishikawa K.; Tabata S.;
DNA Res. 1:27-35(1994)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 3-699 (ISOFORM BETA); VARIANT PRO-456;

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.