UniProtKB/SwissProt variant VAR

Variant information

Variant position:

95

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 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:

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:

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:

95

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

Protein sequence length:

641

The length of the canonical sequence.

Location on the sequence:

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:

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:

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.

Type	Positions	Description
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.

Literature citations

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

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P0DMV9: Variant p.Ile95Val