Variant position: 209 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 575 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 PSSGRSSLGSHQLPRGYISI PVIHEQNVTRPAAQPSFHQAQ
Mouse PSSGRSSLGSHQLPRGYIPI PVIHEQNITRPAAQPSFHQAQ
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 – 575 BAG family molecular chaperone regulator 3
198 – 198 Phosphoserine
Mutation in BAG3 causes severe dominant childhood muscular dystrophy.
Selcen D.; Muntoni F.; Burton B.K.; Pegoraro E.; Sewry C.; Bite A.V.; Engel A.G.;
Ann. Neurol. 65:83-89(2009)
Cited for: VARIANT MFM6 LEU-209;
BAG3-related myofibrillar myopathy in a Chinese family.
Lee H.; Cherk S.; Chan S.; Wong S.; Tong T.; Ho W.; Chan A.; Lee K.; Mak C.;
Clin. Genet. 81:394-398(2012)
Cited for: VARIANT MFM6 LEU-209; VARIANT TRP-258;
Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes.
Arimura T.; Ishikawa T.; Nunoda S.; Kawai S.; Kimura A.;
Hum. Mutat. 32:1481-1491(2011)
Cited for: VARIANTS CMD1HH TRP-218 AND PRO-462; VARIANTS TRP-258; ASN-300; LEU-407 AND ASP-553; CHARACTERIZATION OF VARIANTS CMD1HH TRP-218 AND PRO-462; CHARACTERIZATION OF VARIANT MFM6 LEU-209; CHARACTERIZATION OF VARIANT TRP-258;
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.