UniProtKB/Swiss-Prot P10916: Variant p.Glu22Lys

Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
Gene: MYL2
Chromosomal location: 12q23-q24.3
Variant information

Variant position:  22
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glutamate (E) to Lysine (K) at position 22 (E22K, p.Glu22Lys).
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:  Change from medium size and acidic (E) to large size and basic (K)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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

Involvement in disease:  Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Rarely, patients present a variant of familial hypertrophic cardiomyopathy, characterized by mid-left ventricular chamber thickening. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CMH10; some patients present with mid-left ventricular chamber thickening.
Any additional useful information about the variant.



Sequence information

Variant position:  22
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  166
The length of the canonical sequence.

Location on the sequence:   APKKAKKRAGGANSNVFSMF  E QTQIQEFKEAFTIMDQNRDG
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                         APKKAKKRAGGANSNVFSMFEQTQIQEFKEAFTIMDQNRDG

Mouse                         APKKAKKRIEGGSSNVFSMFEQTQIQEFKEAFTIMDQNRDG

Rat                           SPKKAKKRLEGGSSNVFSMFEQTQIQEFKEAFTIMDQNRDG

Bovine                        SPKKAKKRAEGANYNVFSMFEQTQIQEFKEAFTIMDQNRDG

Rabbit                        SPKKAKKRAEGANSNVFSMFEQTQIQEFKEAFTIMDQNRDG

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.

TypePositionsDescription
Chain 2 – 166 Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
Modified residue 2 – 2 N,N,N-trimethylalanine


Literature citations

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.
Poetter K.; Jiang H.; Hassanzadeh S.; Master S.R.; Chang A.; Dalakas M.C.; Rayment I.; Sellers J.R.; Fananapazir L.; Epstein N.D.;
Nat. Genet. 13:63-69(1996)
Cited for: VARIANTS CMH10 THR-13; LYS-22 AND ALA-95;

Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.
Kabaeva Z.T.; Perrot A.; Wolter B.; Dietz R.; Cardim N.; Correia J.M.; Schulte H.D.; Aldashev A.A.; Mirrakhimov M.M.; Osterziel K.J.;
Eur. J. Hum. Genet. 10:741-748(2002)
Cited for: VARIANTS CMH10 LYS-22 AND GLN-58;

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.