Variant position: 125 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:
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 TLLTEAPLNPKANREKMTQI MFETFNVPAMYVAIQAVLSLY
Mouse TLLTEAPLNPKANREKMTQI MFETFNVPAMYVAIQAVLSLY
Rat TLLTEAPLNPKANREKMTQI MFETFNVPAMYVAIQAVLSLY
Bovine TLLTEAPLNPKANREKMTQI MFETFNVPAMYVAIQAVLSLY
Chicken TLLTEAPLNPKANREKMTQI MFETFNVPAMYVAIQAVLSLY
Xenopus laevis TLLTEAPLNPKANREKMTQI MFETFNVPAMYVAIQAVLSLY
Xenopus tropicalis TLLTEAPLNPKANREKMTQI MFETFNVPAMYVAIQAVLSLY
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
2 – 377 Actin, alpha cardiac muscle 1, intermediate form
3 – 377 Actin, alpha cardiac muscle 1
Alpha-cardiac actin mutations produce atrial septal defects.
Matsson H.; Eason J.; Bookwalter C.S.; Klar J.; Gustavsson P.; Sunnegardh J.; Enell H.; Jonzon A.; Vikkula M.; Gutierrez I.; Granados-Riveron J.; Pope M.; Bu'Lock F.; Cox J.; Robinson T.E.; Song F.; Brook D.J.; Marston S.; Trybus K.M.; Dahl N.;
Hum. Mol. Genet. 17:256-265(2008)
Cited for: VARIANT ASD5 VAL-125; CHARACTERIZATION OF VARIANT ASD5 VAL-125;
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.