Variant position: 349 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1935 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 LMATDNAFDVLGFTSEEKNS MYKLTGAIMHFGNMKFKLKQR
Mouse LMATDSAFDVLGFTPEEKNS IYKLTGAIMHFGNMKFKQKQR
Rat HMATDSAFDVLGFTPEEKNS IYKLTGAIMHFGNMKFKQKQR
Pig LMATDNAFDVLGFTSEEKNS MYKLTGAIMHFGNMKFKLKQR
Bovine LMATDNAFDVLGFTTEEKNS MYKLTGAIMHFGNMKFKLKQR
Horse LMATDNAFDVLGFTSEEKNS MYKLTGAIMHFGNMKFKQKQR
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.
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.
Jeschke B.; Uhl K.; Weist B.; Schroder D.; Meitinger T.; Dohlemann C.; Vosberg H.-P.;
Hum. Genet. 102:299-304(1998)
Cited for: VARIANTS CMH1 THR-349 AND TRP-719;
Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.
Waldmueller S.; Freund P.; Mauch S.; Toder R.; Vosberg H.-P.;
Hum. Mutat. 19:560-569(2002)
Cited for: VARIANTS CMH1 GLN-249; THR-349; GLN-403; ARG-595; MET-606; GLN-719; TRP-719; GLU-927 DEL AND LYS-1555;
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
Van Driest S.L.; Jaeger M.A.; Ommen S.R.; Will M.L.; Gersh B.J.; Tajik A.J.; Ackerman M.J.;
J. Am. Coll. Cardiol. 44:602-610(2004)
Cited for: VARIANTS CMH1 HIS-115; GLN-143; MET-263; CYS-312; THR-349; VAL-385; GLN-403; MET-404; VAL-407; VAL-428; MET-440; CYS-453; THR-511; ARG-515; CYS-663; HIS-663; CYS-694; ARG-716; GLN-719; ARG-741; VAL-778; THR-797; LYS-847 DEL; CYS-858; HIS-869; GLY-894; VAL-908; LYS-921; LYS-924; LYS-931; HIS-953; SER-1057; LYS-1356; MET-1377; TRP-1420; ASN-1459; SER-1513; LYS-1768; MET-1854 AND MET-1929; VARIANTS CYS-1491 AND ASN-1919;
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.