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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q00872: Variant p.Leu234Pro

Myosin-binding protein C, slow-type
Gene: MYBPC1
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Variant information Variant position: help 234
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 234 (L234P, p.Leu234Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In CMYO16; no effects on myosin or actin binding; reduced helicity of certain domains.
Other resources: help


Sequence information Variant position: help 234
Protein sequence length: help 1141
Location on the sequence: help LKNAKPSEYEKIAFQYGITD L RGMLKRLKRMRREEKKSAAF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1141 Myosin-binding protein C, slow-type



Literature citations
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Shashi V.; Geist J.; Lee Y.; Yoo Y.; Shin U.; Schoch K.; Sullivan J.; Stong N.; Smith E.; Jasien J.; Kranz P.; Lee Y.; Shin Y.B.; Wright N.T.; Choi M.; Kontrogianni-Konstantopoulos A.;
Hum. Mutat. 40:1115-1126(2019)
Cited for: INVOLVEMENT IN CMYO16; VARIANTS CMYO16 PRO-234 AND ARG-238; CHARACTERIZATION OF VARIANTS CMYO16 PRO-234 AND ARG-238;
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.