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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P11532: Variant p.Lys18Asn

Dystrophin
Gene: DMD
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Variant information Variant position: help 18 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 Lysine (K) to Asparagine (N) at position 18 (K18N, p.Lys18Asn). 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 large size and basic (K) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 CMD3B; decreased thermodynamic stability; accelerated unfolding, perturbed protein structure; no effect on anchoring function. Any additional useful information about the variant.


Sequence information Variant position: help 18 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 MLWWEEVEDCYEREDVQ K KTFTKWVNAQFSKFGKQHIE 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                         MLWW-------------EEVEDCYEREDVQKKTFTKWVNAQFSKFGKQHIE

                              MLWW-------------EEVEDCYEREDVQKKTFTKWV

Mouse                         MLWW-------------EEVEDCYEREDVQKKTFTKWI

Rat                           MLWW-------------EEVEDCYEREDVQKKTFTKWI

Pig                           -----------------MSEVSSDEREDVQKKTFTKWI

Chicken                       VLWY-------------EEVEDDYEREDVQKKTFTKWI

Caenorhabditis elegans        MLFSGASTAKPKKDEKKDKKSDRDPKNELQEWVFVRWA
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 1 – 1 M -> MTEIILLIFFPAYFLN. In isoform 4.
Alternative sequence 1 – 1 M -> MSARKLRNLSYKK. In isoform 5.
Alternative sequence 2 – 1357 Missing. In isoform 4 and isoform 5.
Helix 14 – 31



Literature citations
Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.
Feng J.; Yan J.; Buzin C.H.; Towbin J.A.; Sommer S.S.;
Mol. Genet. Metab. 77:119-126(2002)
Cited for: VARIANTS CMD3B ASN-18 AND LEU-3228; VARIANTS TRP-2155; THR-2299; GLN-2366; VAL-2910 AND ASP-2912; Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function.
Singh S.M.; Bandi S.; Shah D.D.; Armstrong G.; Mallela K.M.;
PLoS ONE 9:E110439-E110439(2014)
Cited for: CHARACTERIZATION OF VARIANT CMD3B ASN-18;
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.