UniProtKB/SwissProt variant VAR

Caveolin-3
Gene: CAV3
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Variant information Variant position:

56
Type of variant:

LB/B
Residue change:

From Glycine (G) to Serine (S) at position 56 (G56S, p.Gly56Ser).
Physico-chemical properties:

Change from glycine (G) to small size and polar (S)
BLOSUM score:

0
Other resources:

Variant rs72546667 [ dbSNP | Ensembl ]

Sequence information Variant position:

56
Protein sequence length:

151
Location on the sequence:

IVKVDFEDVIAEPVGTYSFD G VWKVSYTTFTVSKYWCYRLL
Residue conservation:

Human                         IVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLL

Mouse                         IVKVDFEDVIAEPEGTYSFDGVWKVSFTTFTVSKYWCYRLL

Rat                           IVKVDFEDVIAEPEGTYSFDGVWRVSYTTFTVSKYWCYRLL

Pig                           IVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLL

Bovine                        IVKVDFEDVIAEPVGTYSFDGVWKVSYTTFTVSKYWCYRLL

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 151	Caveolin-3
Topological domain	1 – 83	Cytoplasmic
Cross	38 – 38	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO3)

Literature citations
Caveolin-3 in muscular dystrophy.
McNally E.M.; de Sa Moreira E.; Duggan D.J.; Bonnemann C.G.; Lisanti M.P.; Lidov H.G.W.; Vainzof M.; Passos-Bueno M.R.; Hoffman E.P.; Zatz M.; Kunkel L.M.;
Hum. Mol. Genet. 7:871-877(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS SER-56 AND TRP-72; Mutations in the caveolin-3 gene: when are they pathogenic?
de Paula F.; Vainzof M.; Bernardino A.L.F.; McNally E.; Kunkel L.M.; Zatz M.;
Am. J. Med. Genet. 99:303-307(2001)
Cited for: VARIANTS SER-56; TRP-72 AND HIS-126; Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
Vatta M.; Ackerman M.J.; Ye B.; Makielski J.C.; Ughanze E.E.; Taylor E.W.; Tester D.J.; Balijepalli R.C.; Foell J.D.; Li Z.; Kamp T.J.; Towbin J.A.;
Circulation 114:2104-2112(2006)
Cited for: VARIANTS LQT9 MET-78; THR-85; CYS-97 AND ARG-141; VARIANTS SER-56 AND TRP-72; CHARACTERIZATION OF VARIANTS LQT9 CYS-97 AND ARG-141;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P56539: Variant p.Gly56Ser