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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P68133: Variant p.Asn117Ser

Actin, alpha skeletal muscle
Gene: ACTA1
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Variant information Variant position: help 117
Type of variant: help LP/P [Disclaimer]
Residue change: help From Asparagine (N) to Serine (S) at position 117 (N117S, p.Asn117Ser).
Physico-chemical properties: help Change from medium size and polar (N) to small size and polar (S)
BLOSUM score: help 1
Variant description: help In CMYO2A.
Other resources: help


Sequence information Variant position: help 117
Protein sequence length: help 377
Location on the sequence: help RVAPEEHPTLLTEAPLNPKA N REKMTQIMFETFNVPAMYVA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 377 Actin, alpha skeletal muscle, intermediate form
Chain 3 – 377 Actin, alpha skeletal muscle
Region 112 – 125 Interaction with alpha-actinin
Helix 115 – 127



Literature citations
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy.
Nowak K.J.; Wattanasirichaigoon D.; Goebel H.H.; Wilce M.; Pelin K.; Donner K.; Jacob R.L.; Hubner C.; Oexle K.; Anderson J.R.; Verity C.M.; North K.N.;
Nat. Genet. 23:208-212(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS CMYO2A ARG-17; TYR-42; SER-117; VAL-134; LEU-165; ASP-184; CYS-185; HIS-258; LEU-265; LYS-282; GLY-288 AND PHE-372; VARIANTS CMYO2B PRO-96 AND VAL-261; Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
Ilkovski B.; Cooper S.T.; Nowak K.; Ryan M.M.; Yang N.; Schnell C.; Durling H.J.; Roddick L.G.; Wilkinson I.; Kornberg A.J.; Collins K.J.; Wallace G.; Gunning P.; Hardeman E.C.; Laing N.G.; North K.N.;
Am. J. Hum. Genet. 68:1333-1343(2001)
Cited for: VARIANTS CMYO2A SER-117; MET-138; GLY-185; CYS-270 AND LEU-359; Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
Ilkovski B.; Nowak K.J.; Domazetovska A.; Maxwell A.L.; Clement S.; Davies K.E.; Laing N.G.; North K.N.; Cooper S.T.;
Hum. Mol. Genet. 13:1727-1743(2004)
Cited for: VARIANTS CMYO2A ILE-68; LYS-74; SER-117; MET-138; LEU-165; MET-165; GLY-185; CYS-270 AND LEU-359;
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.