UniProtKB/SwissProt variant VAR

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

151
Type of variant:

LB/B
Residue change:

From Cysteine (C) to Arginine (R) at position 151 (C151R, p.Cys151Arg).
Physico-chemical properties:

Change from medium size and polar (C) to large size and basic (R)
BLOSUM score:

-3
Other resources:

Variant rs2234962 [ dbSNP | Ensembl ]

Sequence information Variant position:

151
Protein sequence length:

575
Location on the sequence:

PQRSQSPLRGMPETTQPDKQ C GQVAAAAAAQPPASHGPERS
Residue conservation:

Human                         PQRSQSPLR-GMPETTQPDKQCGQV---AAAAAAQPPASHGPERS

Mouse                         PQRSQSPLRGGMTEAAQTDKQCGQMPATATTAAAQPPTAHG

Sequence annotation in neighborhood:

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;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95817: Variant p.Cys151Arg