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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75190: Variant p.Phe93Leu

DnaJ homolog subfamily B member 6
Gene: DNAJB6
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Variant information Variant position: help 93 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 Phenylalanine (F) to Leucine (L) at position 93 (F93L, p.Phe93Leu). 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 large size and aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 LGMDD1; the mutation results in inefficient inhibition of protein aggregation by isoform B. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 326 The length of the canonical sequence.
Location on the sequence: help LNGGGGGGSHFDSPFEFGFT F RNPDDVFREFFGGRDPFSFD 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                         LN-GGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSFD

Mouse                         LNGGGGGGGIHFDSPFEFGFTFRNPDDVFREFFGGRDPFSF

Rat                           LNGGGGGGGSHFDSPFEFGFTFRNPDDVFREFFGGRDPFSF

Bovine                        LN-GGGGGGSHFDSPFEFGFTFRNPEDVFREFFGGRDPFSF

Chicken                       LI-NGGGGGSHHDNPFEFGFTFRNPDDVFREFFGGRDPFSF

Xenopus tropicalis            LT--GGGGGSHFDNPYEFGFTFRSPDDVFRDFFGGRDPFSF

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 – 326 DnaJ homolog subfamily B member 6
Region 2 – 146 Interaction with HSP70



Literature citations
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.
Sarparanta J.; Jonson P.H.; Golzio C.; Sandell S.; Luque H.; Screen M.; McDonald K.; Stajich J.M.; Mahjneh I.; Vihola A.; Raheem O.; Penttila S.; Lehtinen S.; Huovinen S.; Palmio J.; Tasca G.; Ricci E.; Hackman P.; Hauser M.; Katsanis N.; Udd B.;
Nat. Genet. 44:450-455(2012)
Cited for: FUNCTION IN INHIBITION OF HUNTINGTIN AGGREGATION; SUBUNIT; INTERACTION WITH BAG3; HSPB8 AND STUB1; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; VARIANTS LGMDD1 ILE-89 AND LEU-93; CHARACTERIZATION OF VARIANTS LGMDD1 ILE-89 AND LEU-93; Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
Harms M.B.; Sommerville R.B.; Allred P.; Bell S.; Ma D.; Cooper P.; Lopate G.; Pestronk A.; Weihl C.C.; Baloh R.H.;
Ann. Neurol. 71:407-416(2012)
Cited for: VARIANTS LGMDD1 LEU-93 AND ARG-96;
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.