Variant position: 151 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 ANVQVAQLPAQGRRLGNGVQ CLAMGWGLLGRNRGIASVLQE
Mouse ANVQVAQLPAQGQGVGDRTP CLAMGWGRLGTNRPSPSVLQE
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.
Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.
Ancliff P.J.; Gale R.E.; Liesner R.; Hann I.M.; Linch D.C.;
Cited for: VARIANTS SCN1 TYR-55; GLU-85; PRO-GLN-LEU-123 INS; LEU-126; SER-151; 190-VAL--PHE-199 DEL AND ARG-205;
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