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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14896: Variant p.Leu383Val

Myosin-binding protein C, cardiac-type
Gene: MYBPC3
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Variant information Variant position: help 383
Type of variant: help LB/B
Residue change: help From Leucine (L) to Valine (V) at position 383 (L383V, p.Leu383Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 383
Protein sequence length: help 1274
Location on the sequence: help TAFQKKLEPAYQVSKGHKIR L TVELADHDAEVKWLKNGQEI
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1274 Myosin-binding protein C, cardiac-type
Domain 362 – 452 Ig-like C2-type 2
Beta strand 381 – 386



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MET-158; ILE-189; GLY-236; GLN-281; TRP-382; VAL-383; THR-522; VAL-833; GLU-998 AND CYS-1048;
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.