Variant position: 950 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1823 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 YFSIVKIERVGKHGKVFLTV PSLSSTAEEKFIKKGEFSGDD
Mouse YFSIVKIERVGKHGKVFLTV PSLSSTAEEKFIKKGEFAGDD
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
25 – 1823 Laminin subunit alpha-4
833 – 1035 Laminin G-like 1
121 – 1823 Missing. In isoform 3.
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.
Knoell R.; Postel R.; Wang J.; Kraetzner R.; Hennecke G.; Vacaru A.M.; Vakeel P.; Schubert C.; Murthy K.; Rana B.K.; Kube D.; Knoell G.; Schaefer K.; Hayashi T.; Holm T.; Kimura A.; Schork N.; Toliat M.R.; Nuernberg P.; Schultheiss H.P.; Schaper W.; Schaper J.; Bos E.; Den Hertog J.; van Eeden F.J.; Peters P.J.; Hasenfuss G.; Chien K.R.; Bakkers J.;
Cited for: VARIANT CMD1JJ LEU-950; CHARACTERIZATION OF VARIANT CMD1JJ LEU-950;
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