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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00533: Variant p.Gly428Asp

Epidermal growth factor receptor
Gene: EGFR
Variant information Variant position: help 428 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Glycine (G) to Aspartate (D) at position 428 (G428D, p.Gly428Asp). 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: help Change from glycine (G) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In NISBD2; loss of function; the mutant does not localize to the cell membrane; has diffuse cytoplasmic localization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 428 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1210 The length of the canonical sequence.
Location on the sequence: help QAWPENRTDLHAFENLEIIR G RTKQHGQFSLAVVSLNITSL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.




Sequence annotation in neighborhood: help 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.
Chain 25 – 1210 Epidermal growth factor receptor
Topological domain 25 – 645 Extracellular
Repeat 390 – 600 Approximate
Glycosylation 413 – 413 N-linked (GlcNAc...) asparagine
Glycosylation 444 – 444 N-linked (GlcNAc...) asparagine
Alternative sequence 406 – 1210 Missing. In isoform 2.
Mutagenesis 429 – 429 R -> E. Abolishes autophosphorylation and activation of downstream kinases.

Literature citations
Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR.
Campbell P.; Morton P.E.; Takeichi T.; Salam A.; Roberts N.; Proudfoot L.E.; Mellerio J.E.; Aminu K.; Wellington C.; Patil S.N.; Akiyama M.; Liu L.; McMillan J.R.; Aristodemou S.; Ishida-Yamamoto A.; Abdul-Wahab A.; Petrof G.; Fong K.; Harnchoowong S.; Stone K.L.; Harper J.I.; McLean W.H.; Simpson M.A.; Parsons M.; McGrath J.A.;
J. Invest. Dermatol. 134:2570-2578(2014)
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.