Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5F1R6: Variant p.Pro32Ala

DnaJ homolog subfamily C member 21
Gene: DNAJC21
Feedback?
Variant information Variant position: help 32 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 Proline (P) to Alanine (A) at position 32 (P32A, p.Pro32Ala). 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 hydrophobic (P) to small size and hydrophobic (A) 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 BMFS3; loss of HSPA8-binding; no effect on PA2G4-, nor on ZNF622-binding. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 32 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 531 The length of the canonical sequence.
Location on the sequence: help RDASEEELKKAYRKLALKWH P DKNLDNAAEAAEQFKLIQAA 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                         RDASEEELKKAYRKLALKWHPDKNLDNAAEAAEQFKLIQAA

Mouse                         RDASEEELKKAYRKLALRWHPDKNLDNAAEAAEQFKLIQAA

Bovine                        RDASEEELKKAYRKLALKWHPDKNLDNAAEAAEQFKLIQAA

Zebrafish                     RDASDDDLKKAYRKLALKWHPDKNLDNAEDAAEQFKLIQAA
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 – 531 DnaJ homolog subfamily C member 21
Domain 3 – 69 J



Literature citations
DNAJC21 mutations link a cancer-prone bone marrow failure syndrome to corruption in 60S ribosome subunit maturation.
Tummala H.; Walne A.J.; Williams M.; Bockett N.; Collopy L.; Cardoso S.; Ellison A.; Wynn R.; Leblanc T.; Fitzgibbon J.; Kelsell D.P.; van Heel D.A.; Payne E.; Plagnol V.; Dokal I.; Vulliamy T.;
Am. J. Hum. Genet. 99:115-124(2016)
Cited for: VARIANT BMFS3 ALA-32; INVOLVEMENT IN BMFS3; INTERACTION WITH HSPA8; PA2G4 AND ZNF622; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT BMFS3 ALA-32; 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.