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:
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 EREKERQNRLAEERARREEE ENRRKAEDEARKKKALSNMMH
Mouse EREKERQNRLAEERARREEE ENRRKAEDEARKKKALSNMMH
Rat EREKERQNRLAEERARREEE ENRRKAEDEARKKKALSNMMH
Bovine EREKERQTRLAEERARREEE ESRRKAEDEARKKKALSNMMH
Rabbit EREKERQNRLAEERARREEE ESRRKAEDEARKKKALSNMMH
Sheep EREKERQARLAEERARREEE ESRRKAEDEARKKKALSNMMH
Chicken EREKERQARMAEERARKEEE EARKKAEKEARKKKAFSNMLH
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
189 – 189 Phosphoserine
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;
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