Variant position: 428 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1210 The length of the canonical sequence.
Location on the sequence:
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 QAWPENRTDLHAFENLEIIR GRTKQHGQF-SLAVVSLNITSL
Rhesus macaque QAWPENRTDLHAFENLEIIR GRTKQHGQF-SLAVVSLNITS
Mouse QAWPDNWTDLHAFENLEIIR GRTKQHGQF-SLAVVGLNITS
Drosophila EGTHPQFRNLSYFRNLETIH GRQLMESMFAALAIVKSSLYS
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
25 – 1210 Epidermal growth factor receptor
25 – 645 Extracellular
390 – 600 Approximate
413 – 413 N-linked (GlcNAc...) asparagine
444 – 444 N-linked (GlcNAc...) asparagine
406 – 1210 Missing. In isoform 2.
429 – 429 R -> E. Abolishes autophosphorylation and activation of downstream kinases.
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)
Cited for: VARIANT NISBD2 ASP-428; CHARACTERIZATION OF VARIANT NISBD2 ASP-428; INVOLVEMENT IN NISBD2;
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.