Variant position: 228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 894 The length of the canonical sequence.
Location on the sequence:
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 PIGNINLAMEIAEKHLDIPK MLDAEDIVNTPKPDERAIMTY
Mouse PIGNINLAMEIAEKHLDIPK MLDAEDIVNTPKPDERAIMTY
Bovine PIGNINLAMEIAEKHLDIPK MLDAEDIVNTPKPDERAIMTY
Chicken PIGNINLAMEIAEKHLDIPK MLDAEDIVNTPKPDERAIMTY
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
1 – 894 Alpha-actinin-2
151 – 257 Calponin-homology (CH) 2
1 – 254 Actin-binding
237 – 237 Phosphothreonine
Novel alpha-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.
Girolami F.; Iascone M.; Tomberli B.; Bardi S.; Benelli M.; Marseglia G.; Pescucci C.; Pezzoli L.; Sana M.E.; Basso C.; Marziliano N.; Merlini P.A.; Fornaro A.; Cecchi F.; Torricelli F.; Olivotto I.;
Circ. Cardiovasc. Genet. 7:741-750(2014)
Cited for: VARIANT CMH23 THR-228;
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