UniProtKB/Swiss-Prot O95817: Variant p.Cys151Arg

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

151 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 Cysteine (C) to Arginine (R) at position 151 (C151R, p.Cys151Arg). 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 polar (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 rs2234962 [ dbSNP | Ensembl ]

Sequence information Variant position:

151 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:

PQRSQSPLRGMPETTQPDKQ C GQVAAAAAAQPPASHGPERS 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                         PQRSQSPLR-GMPETTQPDKQCGQV---AAAAAAQPPASHGPERS

Mouse                         PQRSQSPLRGGMTEAAQTDKQCGQMPATATTAAAQPPTAHG

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
Domain	124 – 154	WW 2
Region	123 – 200	Disordered
Modified residue	136 – 136	Phosphoserine
Modified residue	139 – 139	Omega-N-methylarginine

Literature citations
Bis, a Bcl-2-binding protein that synergizes with Bcl-2 in preventing cell death.
Lee J.H.; Takahashi T.; Yasuhara N.; Inazawa J.; Kamada S.; Tsujimoto Y.;
Oncogene 18:6183-6190(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ARG-151; FUNCTION; INTERACTION WITH BCL2; A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy.
Villard E.; Perret C.; Gary F.; Proust C.; Dilanian G.; Hengstenberg C.; Ruppert V.; Arbustini E.; Wichter T.; Germain M.; Dubourg O.; Tavazzi L.; Aumont M.C.; DeGroote P.; Fauchier L.; Trochu J.N.; Gibelin P.; Aupetit J.F.; Stark K.; Erdmann J.; Hetzer R.; Roberts A.M.; Barton P.J.; Regitz-Zagrosek V.; Aslam U.; Duboscq-Bidot L.; Meyborg M.; Maisch B.; Madeira H.; Waldenstrom A.; Galve E.; Cleland J.G.; Dorent R.; Roizes G.; Zeller T.; Blankenberg S.; Goodall A.H.; Cook S.; Tregouet D.A.; Tiret L.; Isnard R.; Komajda M.; Charron P.; Cambien F.;
Eur. Heart J. 32:1065-1076(2011)
Cited for: VARIANTS GLN-71; LEU-77; PHE-94; SER-115; ARG-151; THR-155; SER-380 AND LEU-407; VARIANTS CMD1HH LYS-455 AND MET-468;

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.