Variant position: 120 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 IHRKRMEKDLNELQALIEAH FENRKKEEEELVSLKDRIERR
Mouse IHRKRVEKDLNELQTLIEAH FENRKKEEEELISLKDRIEKR
Rat IHRKRMEKDLNELQTLIEAH FENRKKEEEELISLKDRIEKR
Bovine IHRKRMEKDLNELQTLIEAH FENRKKEEEELVSLKDRIEKR
Rabbit IHRKRMEKDLNELQTLIEAH FENRKKEEEELVSLKDRIEKR
Sheep IHRKRMEKDLNELQTLIEAH FENRKKEEEELVSLKDRIEKR
Chicken IHRKRMEKDLNELQALIEAH FESRKKEEEELISLKDRIEQR
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.
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Richard P.; Charron P.; Carrier L.; Ledeuil C.; Cheav T.; Pichereau C.; Benaiche A.; Isnard R.; Dubourg O.; Burban M.; Gueffet J.-P.; Millaire A.; Desnos M.; Schwartz K.; Hainque B.; Komajda M.;
Cited for: VARIANTS CMH2 LEU-80; VAL-120; ILE-281 AND CYS-296;
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