UniProtKB/Swiss-Prot P35658: Variant p.Pro574Ser

Nuclear pore complex protein Nup214
Gene: NUP214
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Variant information Variant position:

574 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 Proline (P) to Serine (S) at position 574 (P574S, p.Pro574Ser). 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 (P) 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 rs103612 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

2090 The length of the canonical sequence.
Location on the sequence:

KPTLESTPVPSVSAPNIAMK P SFPPSTSAVKVNLSEKFTAA 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                         KPTLESTPVPSVSAPNIAMKPSFPPSTSAVKVNLSEKFTAA

Mouse                         KPTLESTPMS--STPNTGMKPSFPPSASSVKVNLNEKFTAV

Caenorhabditis elegans        -----------------------------------------

Drosophila                    GT----------QATTTAMGSMFSASGANA-------FGGM

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	2 – 2090	Nuclear pore complex protein Nup214
Region	236 – 1418	44 X 2 AA repeats of F-G
Region	450 – 586	(Microbial infection) Binds human adenovirus 5 (HAdV-5) protein L3 (hexon)
Region	481 – 2076	11 X 5 AA approximate repeats

Literature citations
The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA.
Von Lindern M.; Fornerod M.; Van Baal S.; Jaegle M.; De Wit T.; Buijs A.; Grosveld G.;
Mol. Cell. Biol. 12:1687-1697(1992)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); CHROMOSOMAL TRANSLOCATION WITH DEK; VARIANT SER-574; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4); VARIANT SER-574;

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.