Variant position: 288 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 KYEINVLRNRINDNQKVSKT--- RGKAKVTGRWK
Mouse KYEINVLRNRINDNQKVSKT--- RGKAKVTG
Rat KYEINVLRNRINDNQKVSKT--- RGKAKVTG
Bovine KYEINVLRNRINDNQKVSKT--- RGKAKVTG
Rabbit KYEINVLRNRINDNQKVSKT--- RGKAKVTG
Sheep KYEINVLRNRVNDNQKVSKT--- RGKAKVTG
Chicken KYEINVLRNRVSDHQKVKGSKAA RGKTMVGG
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
294 – 294 Phosphothreonine; by PKC/PRKCA
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;
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
Ingles J.; Doolan A.; Chiu C.; Seidman J.; Seidman C.; Semsarian C.;
J. Med. Genet. 42:E59-E59(2005)
Cited for: VARIANT CMH2 CYS-288;
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.
Millat G.; Bouvagnet P.; Chevalier P.; Sebbag L.; Dulac A.; Dauphin C.; Jouk P.S.; Delrue M.A.; Thambo J.B.; Le Metayer P.; Seronde M.F.; Faivre L.; Eicher J.C.; Rousson R.;
Eur. J. Med. Genet. 54:E570-E575(2011)
Cited for: VARIANTS CMH2 VAL-38 AND CYS-288; VARIANTS CMD1D TRP-141 AND LYS-220 DEL;
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