Sequence information
Variant position: 288 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 377 The length of the canonical sequence.
Location on the sequence:
FIGMESAGIHETTYNSIMKC
D IDIRKDLYANNVMSGGTTMY
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.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human FIGMESAGIHETTYNSIMKCD IDIRKDLYANNVMSGGTTMY
Mouse FIGMESAGIHETTYNSIMKCD IDIRKDLYANNVMSGGTTMY
Rat FIGMESAGIHETTYNSIMKCD IDIRKDLYANNVMSGGTTMY
Pig FIGMESAGIHETTYNSIMKCD IDIRKDLYANNVMSGGTTMY
Bovine FIGMESAGIHETTYNSIMKCD IDIRKDLYANNVMSGGTTMY
Rabbit FIGMESAGIHETTYNSIMKCD IDIRKDLYANNVMSGGTTMY
Chicken FIGMESAGIHETTYNSIMKCD IDIRKDLYANNVMSGGTTMY
Sequence annotation in neighborhood: 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.
Type Positions Description
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 NEM3 TYR-42; PRO-96; SER-117; VAL-134; ASP-184; CYS-185; HIS-258; VAL-261; LEU-265; LYS-282; GLY-288 AND PHE-372; VARIANTS MPCETM ARG-17 AND LEU-165;
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 NEM3 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;
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
Zukosky K.; Meilleur K.; Traynor B.J.; Dastgir J.; Medne L.; Devoto M.; Collins J.; Rooney J.; Zou Y.; Yang M.L.; Gibbs J.R.; Meier M.; Stetefeld J.; Finkel R.S.; Schessl J.; Elman L.; Felice K.; Ferguson T.A.; Ceyhan-Birsoy O.; Beggs A.H.; Tennekoon G.; Johnson J.O.; Boennemann C.G.;
JAMA Neurol. 72:689-698(2015)
Cited for: INVOLVEMENT IN SHPM; VARIANT SHPM ASP-197; CHARACTERIZATION OF VARIANT SHPM ASP-197; CHARACTERIZATION OF VARIANT NEM3 GLY-288;
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.