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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q59H18: Variant p.Gly526Asp

Serine/threonine-protein kinase TNNI3K
Gene: TNNI3K
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Variant information Variant position: help 526 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 Glycine (G) to Aspartate (D) at position 526 (G526D, p.Gly526Asp). 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 glycine (G) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In CCDD; pathogenic; the mutation results in decreased protein solubility; causes abnormal aggregation; markedly reduced protein expression is observed in the sarcoplasm and nuclei of patient cardiomyocytes; severely reduced autophosphorylation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 526 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 835 The length of the canonical sequence.
Location on the sequence: help FCREVSILCQLNHPCVIQFV G ACLNDPSQFAIVTQYISGGS 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                         FCREVSILCQLNHPCVIQFVGACLNDPSQFAIVTQYISGGS

Mouse                         FCREVSILCQLNHPCVVQFVGACLDDPSQFAIVTQYISGGS

Rat                           FCREVSILCQLNHPCVVQFVGACLDDPSQFAIVTQYISGGS
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 – 835 Serine/threonine-protein kinase TNNI3K
Domain 463 – 723 Protein kinase
Mutagenesis 512 – 512 I -> F. Increased autophosphorylation.
Beta strand 524 – 528



Literature citations
TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.
Theis J.L.; Zimmermann M.T.; Larsen B.T.; Rybakova I.N.; Long P.A.; Evans J.M.; Middha S.; de Andrade M.; Moss R.L.; Wieben E.D.; Michels V.V.; Olson T.M.;
Hum. Mol. Genet. 23:5793-5804(2014)
Cited for: INVOLVEMENT IN CCDD; VARIANT CCDD ASP-526; CHARACTERIZATION OF VARIANT CCDD ASP-526; Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).
Podliesna S.; Delanne J.; Miller L.; Tester D.J.; Uzunyan M.; Yano S.; Klerk M.; Cannon B.C.; Khongphatthanayothin A.; Laurent G.; Bertaux G.; Falcon-Eicher S.; Wu S.; Yen H.Y.; Gao H.; Wilde A.A.M.; Faivre L.; Ackerman M.J.; Lodder E.M.; Bezzina C.R.;
Heart Rhythm 16:98-105(2019)
Cited for: VARIANT CCDD LYS-768; CHARACTERIZATION OF VARIANTS ASP-526 AND LYS-768;
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.