UniProtKB/Swiss-Prot O95817: Variant p.Asp300Asn

BAG family molecular chaperone regulator 3
Gene: BAG3
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Variant information Variant position:

300 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 Aspartate (D) to Asparagine (N) at position 300 (D300N, p.Asp300Asn). 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:

Change from medium size and acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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
Other resources:

Links to websites of interest for the variant.

Variant rs78439745 [ dbSNP | Ensembl ]

Sequence information Variant position:

300 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:

PARSSTPLHSPSPIRVHTVV D RPQQPMTHRETAPVSQPENK 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                         PARSSTPLHSPSPIRVHTVVDRPQQPMTHRETAPVSQPENK

Mouse                         PARSGTPVHCPSPIRVHTVVDRP-QPMTHREPPPVTQPENK

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 – 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.