UniProtKB/Swiss-Prot Q59H18: Variant p.His592Tyr

Serine/threonine-protein kinase TNNI3K
Gene: TNNI3K
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Variant information Variant position:

592 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Histidine (H) to Tyrosine (Y) at position 592 (H592Y, p.His592Tyr). 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 polar (H) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 CCDD; uncertain significance; increased autophosphorylation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs567089878 [ dbSNP | Ensembl ]

Sequence information Variant position:

592 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

835 The length of the canonical sequence.
Location on the sequence:

KGMEYLHNLTQPIIHRDLNS H NILLYEDGHAVVADFGESRF 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                         KGMEYLHNLTQPIIHRDLNSHNILLYEDGHAVVADFGESRF

Mouse                         KGMEYLHSLTQPIIHRDLNSHNILLYEDGHAVVADFGESRF

Rat                           KGMEYLHSLTQPIIHRDLNSHNILLYEDGHAVVADFGESRF

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.

Type	Positions	Description
Chain	1 – 835	Serine/threonine-protein kinase TNNI3K
Domain	463 – 723	Protein kinase
Active site	588 – 588	Proton acceptor
Alternative sequence	591 – 596	SHNILL -> RYFFPK. In isoform 3.
Helix	591 – 593

Literature citations
Genetic burden of TNNI3K in diagnostic testing of patients with dilated cardiomyopathy and supraventricular arrhythmias.
Pham C.; Andrzejczyk K.; Jurgens S.J.; Lekanne Deprez R.; Palm K.C.A.; Vermeer A.M.C.; Nijman J.; Christiaans I.; Barge-Schaapveld D.Q.C.M.; van Dessel P.F.H.M.; Beekman L.; Choi S.H.; Lubitz S.A.; Skoric-Milosavljevic D.; van den Bersselaar L.; Jansen P.R.; Copier J.S.; Ellinor P.T.; Wilde A.A.M.; Bezzina C.R.; Lodder E.M.;
Circ. Genom. Precis. Med. 16:328-336(2023)
Cited for: VARIANTS CCDD THR-512; TYR-592 AND VAL-671; CHARACTERIZATION OF VARIANTS CCDD THR-512; TYR-592; VAL-671 AND LEU-742; CHARACTERIZATION OF VARIANTS LEU-510; PRO-511 AND THR-591; MUTAGENESIS OF LYS-490; ILE-512 AND 556-ARG--ASN-590;

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.