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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P61619: Variant p.Gln92Arg

Protein transport protein Sec61 subunit alpha isoform 1
Gene: SEC61A1
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Variant information Variant position: help 92 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 Glutamine (Q) to Arginine (R) at position 92 (Q92R, p.Gln92Arg). 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 medium size and polar (Q) to large size and basic (R) 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 SCN11; likely pathogenic; reduced protein abundance in patient cells; contrary to the wild type, it localizes to the Golgi apparatus; localizes to the endoplasmic reticulum. Any additional useful information about the variant.


Sequence information Variant position: help 92 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 476 The length of the canonical sequence.
Location on the sequence: help NRGTLMELGISPIVTSGLIM Q LLAGAKIIEVGDTPKDRALF 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                         NRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDTPKDRALF

                              NRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDTPKDRALF

Mouse                         NRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDTPKDRALF

Rat                           NRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDTPKDRALF

Bovine                        NRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDTPKDRALF

Zebrafish                     NRGTLMELGISPIVTSGLIMQLLAGAKIIEVGDTPKDRALF
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 1 – 476 Protein transport protein Sec61 subunit alpha isoform 1
Transmembrane 77 – 96 Helical
Alternative sequence 1 – 120 Missing. In isoform 3.
Helix 82 – 96



Literature citations
Defective Sec61alpha1 underlies a novel cause of autosomal dominant severe congenital neutropenia.
Van Nieuwenhove E.; Barber J.S.; Neumann J.; Smeets E.; Willemsen M.; Pasciuto E.; Prezzemolo T.; Lagou V.; Seldeslachts L.; Malengier-Devlies B.; Metzemaekers M.; Hassdenteufel S.; Kerstens A.; van der Kant R.; Rousseau F.; Schymkowitz J.; Di Marino D.; Lang S.; Zimmermann R.; Schlenner S.; Munck S.; Proost P.; Matthys P.; Devalck C.; Boeckx N.; Claessens F.; Wouters C.; Humblet-Baron S.; Meyts I.; Liston A.;
J. Allergy Clin. Immunol. 146:1180-1193(2020)
Cited for: VARIANT SCN11 ARG-92; CHARACTERIZATION OF VARIANT SCN11 ARG-92; INVOLVEMENT IN SCN11; SUBCELLULAR LOCATION;
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.