Variant position: 15 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 557 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 MDSDEGYNYEFDED EECSEEDSGAEEEEDEDDDEP
Mouse MDSDEGYNYEFDED EECSEEDSGAEEEEDDDEDEP
Bovine MDSDEGYNYEFDED EECSEEDSGAEEEEDEDDDEP
Xenopus laevis MDSDEGYNYEFDDE EECSE-ESGADEHEDE-----
Xenopus tropicalis MDSDEGYNYEFDDE EECSE-DSGADEHEDD-----
Zebrafish MDSDEGYNYEFDDE EEECSEDSGEEETADD-----
Drosophila MDSD-------NDN DFCDNVDSGNVSSGDDGDD--
Baker's yeast MTTD---------- --TTVFVSGAT----------
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 – 557 E3 ubiquitin-protein ligase ARIH1
Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.
Tan K.L.; Haelterman N.A.; Kwartler C.S.; Regalado E.S.; Lee P.T.; Nagarkar-Jaiswal S.; Guo D.C.; Duraine L.; Wangler M.F.; Bamshad M.J.; Nickerson D.A.; Lin G.; Milewicz D.M.; Bellen H.J.;
Dev. Cell 45:226-244(2018)
Cited for: FUNCTION; POSSIBLE INVOLVEMENT IN AORTIC ANEURYSM; VARIANTS GLN-15; GLY-44 AND 171-ARG--ASP-557;
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