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UniProtKB/Swiss-Prot Q15437: Variant p.His489Gln

Protein transport protein Sec23B
Gene: SEC23B
Variant information

Variant position:  489
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Histidine (H) to Glutamine (Q) at position 489 (H489Q, p.His489Gln).
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:  Similar physico-chemical property. Both residues are medium size and polar.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

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

Sequence information

Variant position:  489
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  767
The length of the canonical sequence.

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.




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.

Chain 2 – 767 Protein transport protein Sec23B

Literature citations

Cloning and functional characterization of mammalian homologues of the COPII component Sec23.
Paccaud J.-P.; Reith W.; Carpentier J.-L.; Ravazzola M.; Amherdt M.; Schekman R.; Orci L.;
Mol. Biol. Cell 7:1535-1546(1996)

Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene.
Bianchi P.; Fermo E.; Vercellati C.; Boschetti C.; Barcellini W.; Iurlo A.; Marcello A.P.; Righetti P.G.; Zanella A.;
Hum. Mutat. 30:1292-1298(2009)
Cited for: VARIANTS CDAN2 TRP-14; LYS-109; ALA-348; CYS-497; LEU-603 AND CYS-701; VARIANT GLN-489;

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.