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UniProtKB/Swiss-Prot P35658: Variant p.Gly424Ala

Nuclear pore complex protein Nup214
Gene: NUP214
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                         INQNPGVKSLIKTPERLSLEGERQPKSPGSTPTTPTSSQAP

Mouse                         INQNPGVRSLIKTLELISTEGERQPKSSGSFPGTPSSPQAP

Caenorhabditis elegans        ISTFAAHIPCQMSSQNLA---------------INDLKKLQ

Drosophila                    LNVLPTAVSVCSPPPPVA-------DTSGQFKPLNMLLASE

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.

TypePositionsDescription
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.