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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04792: Variant p.Thr180Ile

Heat shock protein beta-1
Gene: HSPB1
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Variant information Variant position: help 180 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Threonine (T) to Isoleucine (I) at position 180 (T180I, p.Thr180Ile). 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 (T) to medium size and hydrophobic (I) 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; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 180 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 EGTLTVEAPMPKLATQSNEI T IPVTFESRAQLGGPEAAKSD 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                         EGTLTVEAPMPKLATQSNEITIPVTFESRAQLGGPEAAKSD

                              EGTLTVEAPMPKPATQSAEITIPVTFEARAQIGGPEAGKSE

Mouse                         EGTLTVEAPLPKAVTQSAEITIPVTFEARAQIGGPEAGKSE

Rat                           EGTLTVEAPLPKAVTQSAEITIPVTFEARAQIGGPE---SE

Pig                           EGTLSVEAPLPKPATQSAEITIPVTFEARAQLGGTEAGKSE

Bovine                        EGTLTVEAPLPKSATQSAEITIPVTFQARAQLGGPEAGKSE

Chicken                       DGMLTVEAPLPKPAIQSSEITIPVTVEAK----------KE

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
Domain 76 – 184 sHSP
Region 70 – 205 Interaction with TGFB1I1
Modified residue 174 – 174 Phosphothreonine
Modified residue 176 – 176 Phosphoserine
Modified residue 199 – 199 Phosphoserine



Literature citations
A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.
Luigetti M.; Fabrizi G.M.; Madia F.; Ferrarini M.; Conte A.; Del Grande A.; Tasca G.; Tonali P.A.; Sabatelli M.;
J. Neurol. Sci. 298:114-117(2010)
Cited for: VARIANT HMND3 ILE-180; 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; Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.
Echaniz-Laguna A.; Geuens T.; Petiot P.; Pereon Y.; Adriaenssens E.; Haidar M.; Capponi S.; Maisonobe T.; Fournier E.; Dubourg O.; Degos B.; Salachas F.; Lenglet T.; Eymard B.; Delmont E.; Pouget J.; Juntas Morales R.; Goizet C.; Latour P.; Timmerman V.; Stojkovic T.;
Hum. Mutat. 38:556-568(2017)
Cited for: VARIANTS HMND3 SER-7; LEU-39; ASP-53; TRP-127; ARG-128; ILE-151; 175-GLN--LYS-205 DEL; ILE-180 AND LEU-187; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS HMND3 SER-7; ASP-53; ARG-128 AND LEU-187;
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.