Sequence information
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:
PIGNINLAMEIAEKHLDIPK
M LDAEDIVNTPKPDERAIMTY
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 PIGNINLAMEIAEKHLDIPKM LDAEDIVNTPKPDERAIMTY
Mouse PIGNINLAMEIAEKHLDIPKM LDAEDIVNTPKPDERAIMTY
Bovine PIGNINLAMEIAEKHLDIPKM LDAEDIVNTPKPDERAIMTY
Chicken PIGNINLAMEIAEKHLDIPKM LDAEDIVNTPKPDERAIMTY
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
1 – 894
Alpha-actinin-2
Domain
151 – 257
Calponin-homology (CH) 2
Region
1 – 254
Actin-binding
Modified residue
237 – 237
Phosphothreonine
Literature citations
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;
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.