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UniProtKB/Swiss-Prot Q15746: Variant p.Ser1759Pro

Myosin light chain kinase, smooth muscle
Gene: MYLK
Variant information

Variant position:  1759
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 implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Proline (P) at position 1759 (S1759P, p.Ser1759Pro).
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 small size and polar (S) to medium size and hydrophobic (P)
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:  Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780]: A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. {ECO:0000269|PubMed:21055718}. 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 AAT7; 7-fold reduced affinity for calmodulin; 6-fold decreased Vmax.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  1759
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1914
The length of the canonical 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.

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.

Chain 1 – 1914 Myosin light chain kinase, smooth muscle
Chain 1 – 1910 Myosin light chain kinase, smooth muscle, deglutamylated form
Region 1711 – 1774 Calmodulin-binding
Modified residue 1759 – 1759 Phosphoserine
Modified residue 1760 – 1760 Phosphoserine
Modified residue 1772 – 1772 Phosphoserine
Modified residue 1773 – 1773 Phosphoserine
Modified residue 1776 – 1776 Phosphoserine
Modified residue 1778 – 1778 Phosphothreonine
Modified residue 1779 – 1779 Phosphoserine
Alternative sequence 1 – 1760 Missing. In isoform 6 and isoform 8.
Helix 1743 – 1760

Literature citations

Mutations in myosin light chain kinase cause familial aortic dissections.
Wang L.; Guo D.C.; Cao J.; Gong L.; Kamm K.E.; Regalado E.; Li L.; Shete S.; He W.Q.; Zhu M.S.; Offermanns S.; Gilchrist D.; Elefteriades J.; Stull J.T.; Milewicz D.M.;
Am. J. Hum. Genet. 87:701-707(2010)
Cited for: VARIANTS AAT7 MET-1213; THR-1754 AND PRO-1759; VARIANTS VAL-128; HIS-133; ARG-160; CYS-656; ALA-1085 AND LYS-1399; CHARACTERIZATION OF VARIANTS AAT7 THR-1754 AND PRO-1759;

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.