Variant position: 54 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 KQHIENLFSDLQDGRRLLDL LEGLTGQKLPKEKGSTRVHAL
Mouse KQHIDNLFSDLQDGKRLLDL LEGLTGQKLPKEKGSTRVHAL
Rat KQHIDNLFSDLQDGKRLLDL LEGLTGQKLPKEKGSTRVHAL
Pig KQHIENLFNDLQDGRRLLDL LEGLTGQKLPKEKGSTRVHAL
Chicken RRCIEDLFNDFRDGRKLLEL LECLTGQKIAKEKGSTRVHAL
Caenorhabditis elegans TERLTD-YKSLQDGSNAIFV YQAIIGQTMA---------VL
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
15 – 119 Calponin-homology (CH) 1
1 – 240 Actin-binding
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.
48 – 58
A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
Prior T.W.; Papp A.C.; Snyder P.J.; Burghes A.H.M.; Bartolo C.; Sedra M.S.; Western L.M.; Mendell J.R.;
Nat. Genet. 4:357-360(1993)
Cited for: VARIANT DMD ARG-54;
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