UniProtKB/Swiss-Prot P35658: Variant p.Gly424Ala

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

424 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Glycine (G) to Alanine (A) at position 424 (G424A, p.Gly424Ala). 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 glycine (G) to small size and hydrophobic (A) 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
Variant description:

In a breast cancer sample; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

424 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:

INQNPGVKSLIKTPERLSLE G ERQPKSPGSTPTTPTSSQAP 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                         INQNPGVKSLIKTPERLS-LEGERQPKS---PGSTPTTPTSSQAP

Mouse                         INQNPGVRSLIKTLELIS-TEGERQPKS---SGSFPGTPSS

Caenorhabditis elegans        ISTFAAHIPCQMSSQNLA-------------INDLKKLQFD

Drosophila                    LNVLPTAVSVCSPPPPVADTSGQFKPLNMLLASEEEEQPAW

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	422 – 460	Disordered
Modified residue	416 – 416	Phosphothreonine
Modified residue	421 – 421	Phosphoserine
Modified residue	430 – 430	Phosphoserine
Modified residue	433 – 433	Phosphoserine
Modified residue	434 – 434	Phosphothreonine
Modified residue	437 – 437	Phosphothreonine
Modified residue	439 – 439	Phosphothreonine

Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-424; LEU-1378 AND VAL-1392;

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.