Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P68133: Variant p.Asn282Lys

Actin, alpha skeletal muscle
Gene: ACTA1
Variant information Variant position: help 282 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Asparagine (N) to Lysine (K) at position 282 (N282K, p.Asn282Lys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (N) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In CMYP2A. Any additional useful information about the variant.

Sequence information Variant position: help 282 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 377 The length of the canonical sequence.
Location on the sequence: help TLFQPSFIGMESAGIHETTY N SIMKCDIDIRKDLYANNVMS The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
Chain 2 – 377 Actin, alpha skeletal muscle, intermediate form
Chain 3 – 377 Actin, alpha skeletal muscle
Cross 272 – 272 Isoglutamyl lysine isopeptide (Glu-Lys) (interchain with K-52); by Vibrio toxins RtxA and VgrG1

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 CMYP2A 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 CMYP2B PRO-96 AND VAL-261; Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
Agrawal P.B.; Strickland C.D.; Midgett C.; Morales A.; Newburger D.E.; Poulos M.A.; Tomczak K.K.; Ryan M.M.; Iannaccone S.T.; Crawford T.O.; Laing N.G.; Beggs A.H.;
Ann. Neurol. 56:86-96(2004)
Cited for: VARIANTS CMYP2A LEU-37; LEU-40; TYR-42; ARG-43; ASN-66; LEU-75; ARG-75; LEU-77; ALA-79; LYS-85; ALA-136; ASP-148; GLY-181; ASP-184; GLY-185; SER-199; GLY-226; VAL-229; ILE-229; ARG-248; ASP-253; CYS-270; HIS-281; LYS-282; GLY-288 AND GLN-375;
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.