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UniProtKB/Swiss-Prot P08246: Variant p.Ser126Leu

Neutrophil elastase
Gene: ELANE
Variant information

Variant position:  126
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Serine (S) to Leucine (L) at position 126 (S126L, p.Ser126Leu).
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:  Change from small size and polar (S) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  In SCN1 and CH.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  126
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:   ENGYDPVNLLNDIVILQLNG  S ATINANVQVAQLPAQGRRLG
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                         ENGYDPVNLLNDIVILQLNGSATINANVQVAQLPAQGRRLG

Mouse                         ENGFDPSQLLNDIVIIQLNGSATINANVQVAQLPAQGQGVG

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.

TypePositionsDescription
Chain 30 – 267 Neutrophil elastase
Domain 30 – 247 Peptidase S1
Active site 117 – 117 Charge relay system
Glycosylation 124 – 124 N-linked (GlcNAc...) asparagine


Literature citations

Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia.
Dale D.C.; Person R.E.; Bolyard A.A.; Aprikyan A.G.; Bos C.; Bonilla M.A.; Boxer L.A.; Kannourakis G.; Zeidler C.; Welte K.; Benson K.F.; Horwitz M.;
Blood 96:2317-2322(2000)
Cited for: VARIANTS SCN1 THR-57; THR-60; SER-71; MET-101; LEU-126; LEU-139; VAL-210 AND ARG-214; VARIANT CH LEU-139;

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.;
Blood 98:2645-2650(2001)
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;

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--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;

Ela2 mutations and clinical manifestations in familial congenital neutropenia.
Shiohara M.; Shigemura T.; Saito S.; Tanaka M.; Yanagisawa R.; Sakashita K.; Asada H.; Ishii E.; Koike K.; Chin M.; Kobayashi M.; Koike K.;
J. Pediatr. Hematol. Oncol. 31:319-324(2009)
Cited for: VARIANTS SCN1 LEU-42; PRO-81; MET-101 AND LEU-126;

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--199-PHE 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.