Variant position: 116 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 319 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 RKKYRKTKVPVVKEPEPEII TEPVDVPTFLKAALENKLPVV
Mouse RKKYKKTKVPVVKEPEPEIM TEPVDVPRFLKAALENKLPVV
Rat RKKYKKTKVPVVKEPEPEII TEPVDVPRFLKAALENKLPVV
Pig RKKYRKTKVPVVKEPEPEVI TEPVDVPRFLKAALENKLPVV
Bovine RKKYKKTKVPVVKEPEPEIV TEPVDVPMFLKAALENKLPVI
Rabbit RKKYRKTKVPVAKEPEPEII TEPVDVPRFLKAALENKLAVV
Chicken KKKCRKVKAPLLKEPEPEVI TGPVDIAMFFRAALENKLPVI
Xenopus laevis RKRVKKVKVPVVKEPEPEET IGDVDQMTFFKAALDNKMSII
Xenopus tropicalis RKRVKKVHVPVVKEPEPEEI IENVDQTTFFKAALDNKMPVI
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 – 319 Ankyrin repeat domain-containing protein 1
Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return.
Cinquetti R.; Badi I.; Campione M.; Bortoletto E.; Chiesa G.; Parolini C.; Camesasca C.; Russo A.; Taramelli R.; Acquati F.;
Hum. Mutat. 29:468-474(2008)
Cited for: VARIANT MET-116;
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