Variant position: 279 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3685 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 KVTKEEHFQLHHQMHYSQQI TVSLAQGYERTSS-PKPRFKSY
Mouse KVTREEHFQLHHQMHYSQQI TVSLAQGYEQTSSSPKPRFKS
Rat KVTREEHFQLHHQMHYSQQI TVSLAQGYEQTSSSPKPRFKS
Pig KVTREEHFQLHHQMHYSQQI TVCLAQGYERTPS-PKPRFKS
Chicken RVTTEEHIQVHHQQHFSQEI TVNIPQ---RPSPSPKPRFKS
Caenorhabditis elegans --QKVAALLASHKMLSSQPS TSSSSALQIPPQTPPTAHHQA
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 – 3685 Dystrophin
1 – 3068 Missing. In isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17.
1 – 2729 Missing. In isoform 11.
1 – 2460 Missing. In isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10.
2 – 1357 Missing. In isoform 4 and isoform 5.
Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy.
Ortiz-Lopez R.; Li H.; Su J.; Goytia V.; Towbin J.A.;
Cited for: VARIANT CMD3B ALA-279;
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