Variant position: 102 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:
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 PNLVPPKIPDGERVDFDDIH RKRMEKDLNELQALIEAHFEN
Mouse PNLVPPKIPDGERVDFDDIH RKRVEKDLNELQTLIEAHFEN
Rat PNLVPPKIPDGERVDFDDIH RKRMEKDLNELQTLIEAHFEN
Bovine PNLVPPKIPDGERVDFDDIH RKRMEKDLNELQTLIEAHFEN
Rabbit PNLVPPKIPDGERVDFDDIH RKRMEKDLNELQTLIEAHFEN
Sheep PNLVPPKIPDGERVDFDDIH RKRMEKDLNELQTLIEAHFEN
Chicken PNLVPPKIPDGERLDFDDIH RKRMEKDLNELQALIEAHFES
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
2 – 298 Troponin T, cardiac muscle
99 – 137 Missing. In isoform 9 and isoform 12.
Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.
Forissier J.F.; Carrier L.; Farza H.; Bonne G.; Bercovici J.; Richard P.; Hainque B.; Townsend P.J.; Yacoub M.H.; Faure S.; Dubourg O.; Millaire A.; Hagege A.A.; Desnos M.; Komajda M.; Schwartz K.;
Cited for: VARIANT CMH2 LEU-102;
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