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UniProtKB/Swiss-Prot Q15746: Variant p.Ala1754Thr

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

Variant position:  1754
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Alanine (A) to Threonine (T) at position 1754 (A1754T, p.Ala1754Thr).
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 hydrophobic (A) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In AAT7; 4-fold reduced affinity for calmodulin; decreased kinase activity compared to wild-type protein.
Any additional useful information about the variant.



Sequence information

Variant position:  1754
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1914
The length of the canonical sequence.

Location on the sequence:   DRMKKYMARRKWQKTGNAVR  A IGRLSSMAMISGLSGRKSST
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.

TypePositionsDescription
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
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.