Variant position: 146 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 NPYKWLPVYTPEVVAAYRGK KRSEAPPHIFSISDNAYQYML
Mouse NPYKWLPVYNAEVVAAYRGK KRSEAPPHIFSISDNAYQYML
Rat NPYKWLPVYNAQVVAAYRGK KRSEAPPHIFSISDNAYQYML
Pig NPYKWLPVYNAEVVAAYRGK KRSEAPPHIFSISDNAYQYML
Bovine NPYKWLPVYNAEVVAAYRGK KRSEAPPHIFSISDNAYQYML
Horse NPYKWLPVYTAEVVAAYRGK KRSEAPPHIFSISDNAYQYML
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
1 – 1935 Myosin-7
85 – 778 Myosin motor
129 – 129 N6,N6,N6-trimethyllysine
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: VARIANTS CMH1 ASN-146; LEU-186; MET-606; HIS-663; ALA-698; GLN-719; CYS-723; THR-736; GLU-742 AND ASP-1057;
Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H.; Rehm H.L.; Menesses A.; McDonough B.; Roberts A.E.; Kucherlapati R.; Towbin J.A.; Seidman J.G.; Seidman C.E.;
N. Engl. J. Med. 358:1899-1908(2008)
Cited for: VARIANTS CMH1 ASN-146; MET-606; HIS-663; GLN-719; MET-763; CYS-787; VAL-908; LYS-924 AND MET-1414;
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.