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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04792: Variant p.Glu41Lys

Heat shock protein beta-1
Gene: HSPB1
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Variant information Variant position: help 41 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 Glutamate (E) to Lysine (K) at position 41 (E41K, p.Glu41Lys). 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 acidic (E) to large size and basic (K) 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 HMND3; increased aggregation; increased homooligomerization; changed function in chaperone-mediated protein folding. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 41 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 205 The length of the canonical sequence.
Location on the sequence: help DWYPHSRLFDQAFGLPRLPE E WSQWLGGSSWPGYVRPLPPA 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                         DWYP-HSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPPA

                              DWYPAHSRLFDQAFGLPRLPEEWAQWFGHSGWPGYVRPIP-

Mouse                         DWYPAHSRLFDQAFGVPRLPDEWSQWFSAAGWPGYVRPLPA

Rat                           DWYPAHSRLFDQAFGVPRFPDEWSQWFSSAGWPGYVRPLPA

Pig                           DWYPAHSRLFDQAFGLPRLPEEWSQWLSHSGWPGYVRPLPP

Bovine                        DWYPAHSRLFDQAFGLPRLPEEWSQWLSHSGWPGYVRALPA

Chicken                       DWYH-GSRLFDQSFGMPHIPEDWYKWPSGSAWPGYFRLLPS
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 – 205 Heat shock protein beta-1
Modified residue 26 – 26 Phosphoserine



Literature citations
HSPB1 and HSPB8 in inherited neuropathies: study of an Italian cohort of dHMN and CMT2 patients.
Capponi S.; Geroldi A.; Fossa P.; Grandis M.; Ciotti P.; Gulli R.; Schenone A.; Mandich P.; Bellone E.;
J. Peripher. Nerv. Syst. 16:287-294(2011)
Cited for: VARIANTS HMND3 ARG-34; LYS-41; LEU-136 AND ILE-180; VARIANTS CMT2F LEU-39; LEU-136 AND TRP-188; Characterization of mutants of human small heat shock protein HspB1 carrying replacements in the n-terminal domain and associated with hereditary motor neuron diseases.
Muranova L.K.; Weeks S.D.; Strelkov S.V.; Gusev N.B.;
PLoS ONE 10:E0126248-E0126248(2015)
Cited for: CHARACTERIZATION OF VARIANTS HMND3 ARG-34; LEU-39 AND LYS-41;
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.