Variant position: 89 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 326 The length of the canonical sequence.
Location on the sequence:
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 GKEGLN-GGGGGGSHFDSPFE FGFTFRNPDDVFREFFGGRDP
Mouse GKEGLNGGGGGGGIHFDSPFE FGFTFRNPDDVFREFFGGRD
Rat GKEGLNGGGGGGGSHFDSPFE FGFTFRNPDDVFREFFGGRD
Bovine GKEGLN-GGGGGGSHFDSPFE FGFTFRNPEDVFREFFGGRD
Chicken GKEGLI-NGGGGGSHHDNPFE FGFTFRNPDDVFREFFGGRD
Xenopus tropicalis GKEGLT--GGGGGSHFDNPYE FGFTFRSPDDVFRDFFGGRD
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
2 – 326 DnaJ homolog subfamily B member 6
2 – 146 Interaction with HSP70
83 – 172 Gly/Phe-rich
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;
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.