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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P0DMV9: Variant p.Ile95Val

Heat shock 70 kDa protein 1B
Gene: HSPA1B
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Variant information Variant position: help 95 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Isoleucine (I) to Valine (V) at position 95 (I95V, p.Ile95Val). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 3 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



Sequence information Variant position: help 95 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 641 The length of the canonical sequence.
Location on the sequence: help GRKFGDPVVQSDMKHWPFQV I NDGDKPKVQVSYKGETKAFY 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                         GRKFGDPVVQSDMKHWPFQVINDGDKPKVQVSYKGETKAFY

Mouse                         GRKFGDAVVQSDMKHWPFQVVNDGDKPKVQVNYKGESRSFF

Rat                           GRKFGDPVVQSDMKHWPFQVVNDGDKPKVQVNYKGENRSFY

Pig                           GRKFGDPVVQADMKHWPFRVINDGDKPKVQVSYKGETKAFY

Bovine                        GRKFGDPVVQSDMKHWPFRVINDGDKPKVQVSYKGETKAFY

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 2 – 641 Heat shock 70 kDa protein 1B
Region 2 – 386 Nucleotide-binding domain (NBD)
Modified residue 77 – 77 N6-acetyllysine
Modified residue 108 – 108 N6-acetyllysine
Mutagenesis 77 – 77 K -> Q. No loss of acetylation and ATPase activity. Exhibits normal protein refolding activity during the early phase but exhibits defects in ubiquitin-mediated protein degradation during the later phase.
Mutagenesis 77 – 77 K -> R. Significant loss of acetylation and ATPase activity. Decreased binding to HOPX and HSP90 and increased binding to STUB1 and NAA10. Impaired capacity for protein refolding during the early phase after stress but shows normal protein degradation activity in the late phase.
Beta strand 91 – 97



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-95; VAL-467 AND SER-499;
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.