Variant position: 645 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 QDLLSTLK--NKSVTQKTEAWL DNFARCWDNLVQKLEKSTAQI
Mouse QDLLSALK--NKSVTQKMEIWM ENFAQRWDNLTQKLEKSSA
Rat QDLLSALK--NKSVTQKMEMWM ENFAQRWDNLTQKLEKSSA
Pig QDLLSTLK--NTLVAQKMEAWL DNFAQRWDNLVQKLEKSST
Chicken RDLLVAVK--NKAVAQKLESRL ENFAQRWDSLVQKLESDSK
Caenorhabditis elegans CELVGRLDDSNGAAANAVRLSL DSITQRWDNLVARIEEHGK
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
559 – 667 Spectrin 3
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.
Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16.
Prior T.W.; Bartolo C.; Papp A.C.; Snyder P.J.; Sedra M.S.; Burghes A.H.; Mendell J.R.;
Hum. Mol. Genet. 3:1173-1174(1994)
Cited for: VARIANT DMD GLY-645;
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