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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95817: Variant p.Asp300Asn

BAG family molecular chaperone regulator 3
Gene: BAG3
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Variant information Variant position: help 300
Type of variant: help LB/B
Residue change: help From Aspartate (D) to Asparagine (N) at position 300 (D300N, p.Asp300Asn).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 300
Protein sequence length: help 575
Location on the sequence: help PARSSTPLHSPSPIRVHTVV D RPQQPMTHRETAPVSQPENK
Residue conservation: help 
Human                         PARSSTPLHSPSPIRVHTVVDRPQQPMTHRETAPVSQPENK

Mouse                         PARSGTPVHCPSPIRVHTVVDRP-QPMTHREPPPVTQPENK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 575 BAG family molecular chaperone regulator 3
Region 240 – 421 Disordered
Modified residue 285 – 285 Phosphothreonine
Modified residue 289 – 289 Phosphoserine
Modified residue 291 – 291 Phosphoserine



Literature citations
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;
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.