Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08246: Variant p.Arg220Gln

Neutrophil elastase
Gene: ELANE
Feedback?
Variant information Variant position: help 220 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 Arginine (R) to Glutamine (Q) at position 220 (R220Q, p.Arg220Gln). 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 Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 220 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 GDSGSPLVCNGLIHGIASFV R GGCASGLYPDAFAPVAQFVN 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                         GDSGSPLVCNGLIHGIASFVRGGCASGLYPDAFAPVAQFVN

Mouse                         GDSGGPLVCNNLVQGIDSFIRGGCGSGLYPDAFAPVAEFAD
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
Active site 202 – 202 Charge relay system
Disulfide bond 198 – 223
Beta strand 220 – 222



Literature citations
A novel notch protein, N2N, targeted by neutrophil elastase and implicated in hereditary neutropenia.
Duan Z.; Li F.-Q.; Wechsler J.; Meade-White K.; Williams K.; Benson K.F.; Horwitz M.;
Mol. Cell. Biol. 24:58-70(2004)
Cited for: INTERACTION WITH NOTCH2NL; CHARACTERIZATION OF VARIANT CH GLN-220; Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.
Horwitz M.; Benson K.F.; Person R.E.; Aprikyan A.G.; Dale D.C.;
Nat. Genet. 23:433-436(1999)
Cited for: VARIANTS CH VAL-61; PHE-206 AND GLN-220; 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; 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.