Variant position: 127 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 267 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 NGYDPVNLLNDIVILQLNGS ATINANVQVAQLPAQGRRLGN
Mouse NGFDPSQLLNDIVIIQLNGS ATINANVQVAQLPAQGQGVGD
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
30 – 267 Neutrophil elastase
30 – 247 Peptidase S1
117 – 117 Charge relay system
124 – 124 N-linked (GlcNAc...) asparagine
Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.
Bellanne-Chantelot C.; Clauin S.; Leblanc T.; Cassinat B.; Rodrigues-Lima F.; Beaufils S.; Vaury C.; Barkaoui M.; Fenneteau O.; Maier-Redelsperger M.; Chomienne C.; Donadieu J.;
Cited for: VARIANTS SCN1 LEU-42; PRO-47; LEU-53; PRO-81; PRO-84; PRO-121; PRO-127; LEU-139; PRO-152 AND 190-VAL--199-PHE DEL; VARIANTS CH LEU-43; PHE-46; MET-82; LEU-126; LEU-139; 190-VAL--199-PHE DEL AND GLN-220; VARIANTS ILE-219 AND LEU-262;
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