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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q969P5: Variant p.Gly243Arg

F-box only protein 32
Gene: FBXO32
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Variant information Variant position: help 243
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 243 (G243R, p.Gly243Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help Found in patients with familial dilated cardiomyopathy; likely pathogenic; impairs the formation of SCF complex; reduced ubiquitination of cellular proteins.
Other resources: help


Sequence information Variant position: help 243
Protein sequence length: help 355
Location on the sequence: help LTFTDLPLCLQLNIMQRLSD G RDLVSLGQAAPDLHVLSEDR
Residue conservation: help
Human                         LTFTDLPLCLQLNIMQRLSDGRDLVSLGQAAPDLHVLSEDR

Mouse                         LTITDLPVCLQLNIMQRLSDGRDLVSLGQAAPDLHVLSEDR

Rat                           LTITDLPVCLQLNIMQRLSDGRDLVSLGQAAPDLHVLSEDR

Pig                           LTFTDLPLCLQLNIMQRLSDGRDLVSLGQVAPDLHVLSEDR

Bovine                        LTFTDLPLCLQLNIMQRLSDGRDLVSLGQVAPDLHVLSEDR

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 355 F-box only protein 32
Domain 223 – 271 F-box



Literature citations
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
Al-Hassnan Z.N.; Shinwari Z.M.; Wakil S.M.; Tulbah S.; Mohammed S.; Rahbeeni Z.; Alghamdi M.; Rababh M.; Colak D.; Kaya N.; Al-Fayyadh M.; Alburaiki J.;
BMC Med. Genet. 17:3-3(2016)
Cited for: INVOLVEMENT IN DCM; VARIANT ARG-243; SUBCELLULAR LOCATION; FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy.
Al-Yacoub N.; Shaheen R.; Awad S.M.; Kunhi M.; Dzimiri N.; Nguyen H.C.; Xiong Y.; Al-Buraiki J.; Al-Habeeb W.; Alkuraya F.S.; Poizat C.;
Genome Biol. 17:R2.1-R2.11(2016)
Cited for: INVOLVEMENT IN DCM; VARIANT ARG-243; CHARACTERIZATION OF VARIANT ARG-243; SUBUNIT;
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.