UniProtKB/Swiss-Prot P45379: Variant p.Glu173Lys

Troponin T, cardiac muscle
Gene: TNNT2
Chromosomal location: 1q32
Variant information

Variant position:  173
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 173 (E173K, p.Glu173Lys).
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

Variant description:  In CMH2.
Any additional useful information about the variant.



Sequence information

Variant position:  173
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  298
The length of the canonical sequence.

Location on the sequence:   EREKERQNRLAEERARREEE  E NRRKAEDEARKKKALSNMMH
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                         EREKERQNRLAEERARREEEENRRKAEDEARKKKALSNMMH

Mouse                         EREKERQNRLAEERARREEEENRRKAEDEARKKKALSNMMH

Rat                           EREKERQNRLAEERARREEEENRRKAEDEARKKKALSNMMH

Bovine                        EREKERQTRLAEERARREEEESRRKAEDEARKKKALSNMMH

Rabbit                        EREKERQNRLAEERARREEEESRRKAEDEARKKKALSNMMH

Sheep                         EREKERQARLAEERARREEEESRRKAEDEARKKKALSNMMH

Chicken                       EREKERQARMAEERARKEEEEARKKAEKEARKKKAFSNMLH

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 – 298 Troponin T, cardiac muscle


Literature citations

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
Watkins H.; McKenna W.J.; Thierfelder L.; Suk H.J.; Anan R.; O'Donoghue A.; Spirito P.; Matsumori A.; Moravec C.S.; Seidman J.G.; Seidman C.E.;
N. Engl. J. Med. 332:1058-1064(1995)
Cited for: VARIANTS CMH2 ILE-120; LYS-173; ASP-254 AND CYS-288;

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.