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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08246: Variant p.Leu152Pro

Neutrophil elastase
Gene: ELANE
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Variant information Variant position: help 152 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 Leucine (L) to Proline (P) at position 152 (L152P, p.Leu152Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 SCN1. Any additional useful information about the variant.


Sequence information Variant position: help 152 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 267 The length of the canonical sequence.
Location on the sequence: help NVQVAQLPAQGRRLGNGVQC L AMGWGLLGRNRGIASVLQEL 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.
Human                         NVQVAQLPAQGRRLGNGVQCLAMGWGLLGRNRGIASVLQEL

Mouse                         NVQVAQLPAQGQGVGDRTPCLAMGWGRLGTNRPSPSVLQEL

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.
TypePositionsDescription
Chain 30 – 267 Neutrophil elastase
Domain 30 – 247 Peptidase S1
Disulfide bond 151 – 208
Beta strand 150 – 158



Literature citations
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.;
Blood 103:4119-4125(2004)
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--PHE-199 DEL; VARIANTS CH LEU-43; PHE-46; MET-82; LEU-126; LEU-139; 190-VAL--PHE-199 DEL AND GLN-220; VARIANTS ILE-219 AND LEU-262; Four novel ELANE mutations in patients with congenital neutropenia.
Kurnikova M.; Maschan M.; Dinova E.; Shagina I.; Finogenova N.; Mamedova E.; Polovtseva T.; Shagin D.; Shcherbina A.;
Pediatr. Blood Cancer 57:332-335(2011)
Cited for: VARIANTS SCN1 THR-131; PRO-152; GLY-235 AND 190-VAL--PHE-199 DEL; The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
Germeshausen M.; Deerberg S.; Peter Y.; Reimer C.; Kratz C.P.; Ballmaier M.;
Hum. Mutat. 34:905-914(2013)
Cited for: VARIANTS SCN1 VAL-25; LEU-42; LEU-43; GLU-45; PHE-46; ARG-47; PRO-49; SER-55; ARG-56; SER-57; THR-57; VAL-57; PRO-59; 60-ILE-ALA-61 DELINS ARG; THR-60; VAL-61; VAL-65 DEL; 66-MET--HIS-70 DEL; TRP-67; ARG-71; PHE-71; TYR-71; GLY-72; GLY-80; PRO-81; MET-82; PRO-84; GLU-85; LEU-98; MET-98; LEU-101; MET-101; LEU-103; PRO-103; ASN-120; PHE-120; SER-120; PRO-121; HIS-123; ILE-124; LEU-126; ASP-127; THR-131; ASP-136; ARG-139; LEU-139; PHE-151; TRP-151; TYR-151; PRO-152; ASP-153; PRO-153; ARG-156; CYS-156; THR-166; ARG-203; ARG-205; SER-206; GLY-208; ARG-214; GLU-214; GLN-220; PRO-233; GLU-235 AND GLY-235; VARIANTS CH LEU-45; VAL-61; PRO-81; LEU-97; ASN-104; PHE-120; LEU-126; LEU-139; HIS-143; 190-VAL--PHE-199 DEL; CYS-203; ILE-209; TRP-210 AND GLN-220; VARIANTS VAL-118; ARG-125; MET-135; ILE-219 AND LEU-257;
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.