Variant position: 288 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2647 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 KLKPGAPLRPKLNPKKARAY GPGIEPTGNMVKKRAEFTVET
Mouse KLKPGAPLRPKLNPKKARAY GPGIEPTGNMVKKRAEFTVET
Drosophila KLKTGAPLRPKTNPNRVRAY GPGIEPIGPVVGAPANFTVET
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 – 2647 Filamin-A
276 – 374 Filamin 1
271 – 294 Disordered
299 – 299 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternate
299 – 299 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate
Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.
Kyndt F.; Gueffet J.P.; Probst V.; Jaafar P.; Legendre A.; Le Bouffant F.; Toquet C.; Roy E.; McGregor L.; Lynch S.A.; Newbury-Ecob R.; Tran V.; Young I.; Trochu J.N.; Le Marec H.; Schott J.J.;
Cited for: VARIANTS CVD1 ARG-288; GLN-637 AND ASP-711;
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