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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P19429: Variant p.Ser166Phe

Troponin I, cardiac muscle
Gene: TNNI3
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Variant information Variant position: help 166 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 Serine (S) to Phenylalanine (F) at position 166 (S166F, p.Ser166Phe). 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 small size and polar (S) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In CMH7. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 166 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 210 The length of the canonical sequence.
Location on the sequence: help RVRISADAMMQALLGARAKE S LDLRAHLKQVKKEDTEKENR 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                         RVRISADAMMQALLGARAKESLDLRAHLKQV---KKEDTEKEN--R

                              RVRISADAMMQALLGTRAKESLDLRAHLKQV---KKEDTEK

Mouse                         RVRISADAMMQALLGTRAKESLDLRAHLKQV---KKEDIEK

Rat                           RVRISADAMMQALLGTRAKESLDLRAHLKQV---KKEDIEK

Bovine                        RVRISADAMMQALLGARAKETLDLRAHLKQV---KKEDTEK

Rabbit                        RVRISADAMMQALLGTRAKETLDLRAHLKQV---KKEDTEK

Cat                           RVRISADAMMQALLGTRAKESLDLRAHLKQV---KKEDTEK

Horse                         RVRISADAMMQALLGTRAKETLDLRAHLKQV---KKEDTEK

Xenopus laevis                RVRLSADAMMMALLGTKHKVSMDLRANLKQVKQTKKDDADK

Caenorhabditis elegans        KVSKYDNKFKSS---GEVKEKSNFRNNLKVV---KKETDLD
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 2 – 210 Troponin I, cardiac muscle
Modified residue 150 – 150 Phosphoserine; by PAK3
Modified residue 166 – 166 Phosphoserine
Modified residue 181 – 181 Phosphothreonine
Helix 163 – 188



Literature citations
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
Erdmann J.; Daehmlow S.; Wischke S.; Senyuva M.; Werner U.; Raible J.; Tanis N.; Dyachenko S.; Hummel M.; Hetzer R.; Regitz-Zagrosek V.;
Clin. Genet. 64:339-349(2003)
Cited for: VARIANT CMH7 PHE-166;
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.