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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P28065: Variant p.Gly156Asp

Proteasome subunit beta type-9
Gene: PSMB9
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Variant information Variant position: help 156 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 Glycine (G) to Aspartate (D) at position 156 (G156D, p.Gly156Asp). 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 glycine (G) to medium size and acidic (D) 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 PRAAS6; pathogenic; loss of most of the chymotrypsin-like, trypsin-like and caspase-like proteasomal activities, when tested in patient lymphoblastoid cells, compared to parent cells; may affect proteasome assembly. Any additional useful information about the variant.


Sequence information Variant position: help 156 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 219 The length of the canonical sequence.
Location on the sequence: help GGMLTRQPFAIGGSGSTFIY G YVDAAYKPGMSPEECRRFTT 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                         GGMLTRQPFAIGGSGSTFIYGYVDAAYKPGMSPEECRRFTT

Mouse                         GGMLIRQPFTIGGSGSSYIYGYVDAAYKPGMTPEECRRFTT

Rat                           GGMLIRQPFAIGGSGSTYIYGYVDAAYKPGMTPEECRRFTT

Bovine                        SGMLIRQPFAIGGSGSTYIYGYVDAAYKPGMSPEECRRFTT
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 21 – 219 Proteasome subunit beta type-9
Helix 155 – 161



Literature citations
Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor.
Kataoka S.; Kawashima N.; Okuno Y.; Muramatsu H.; Miwata S.; Narita K.; Hamada M.; Murakami N.; Taniguchi R.; Ichikawa D.; Kitazawa H.; Suzuki K.; Nishikawa E.; Narita A.; Nishio N.; Yamamoto H.; Fukasawa Y.; Kato T.; Yamamoto H.; Natsume J.; Kojima S.; Nishino I.; Taketani T.; Ohnishi H.; Takahashi Y.;
J. Allergy Clin. Immunol. 148:639-644(2021)
Cited for: INVOLVEMENT IN PRAAS6; VARIANT PRAAS6 ASP-156; CHARACTERIZATION OF VARIANT PRAAS6 ASP-156; FUNCTION; Heterozygous missense variant of the proteasome subunit beta-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
Kanazawa N.; Hemmi H.; Kinjo N.; Ohnishi H.; Hamazaki J.; Mishima H.; Kinoshita A.; Mizushima T.; Hamada S.; Hamada K.; Kawamoto N.; Kadowaki S.; Honda Y.; Izawa K.; Nishikomori R.; Tsumura M.; Yamashita Y.; Tamura S.; Orimo T.; Ozasa T.; Kato T.; Sasaki I.; Fukuda-Ohta Y.; Wakaki-Nishiyama N.; Inaba Y.; Kunimoto K.; Okada S.; Taketani T.; Nakanishi K.; Murata S.; Yoshiura K.I.; Kaisho T.;
Nat. Commun. 12:6819-6819(2021)
Cited for: INVOLVEMENT IN PRAAS6; VARIANT PRAAS6 ASP-156; CHARACTERIZATION OF VARIANT PRAAS6 ASP-156; FUNCTION;
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.