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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11532: Variant p.Leu54Arg

Dystrophin
Gene: DMD
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Variant information Variant position: help 54 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Leucine (L) to Arginine (R) at position 54 (L54R, p.Leu54Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In DMD. Any additional useful information about the variant.


Sequence information Variant position: help 54 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 3685 The length of the canonical sequence.
Location on the sequence: help KQHIENLFSDLQDGRRLLDL L EGLTGQKLPKEKGSTRVHAL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KQHIENLFSDLQDGRRLLDLLEGLTGQKLPKEKGSTRVHAL

                              KQHIENLFSDLQDGRRLLDLLEGLTGQKLPKEKGSTRVHAL

Mouse                         KQHIDNLFSDLQDGKRLLDLLEGLTGQKLPKEKGSTRVHAL

Rat                           KQHIDNLFSDLQDGKRLLDLLEGLTGQKLPKEKGSTRVHAL

Pig                           KQHIENLFNDLQDGRRLLDLLEGLTGQKLPKEKGSTRVHAL

Chicken                       RRCIEDLFNDFRDGRKLLELLECLTGQKIAKEKGSTRVHAL

Caenorhabditis elegans        TERLTD-YKSLQDGSNAIFVYQAIIGQTMA---------VL
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 3685 Dystrophin
Domain 15 – 119 Calponin-homology (CH) 1
Region 1 – 240 Actin-binding
Alternative sequence 1 – 3068 Missing. In isoform 12, isoform 13, isoform 14, isoform 15, isoform 16 and isoform 17.
Alternative sequence 1 – 2729 Missing. In isoform 11.
Alternative sequence 1 – 2460 Missing. In isoform 6, isoform 7, isoform 8, isoform 9 and isoform 10.
Alternative sequence 2 – 1357 Missing. In isoform 4 and isoform 5.
Helix 48 – 58



Literature citations
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;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.