Variant position: 1112 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1320 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 LDCKVSGLPPPELTWLLNGQ PVLPDASHKMLVRETGVHSLL
Mouse LDCKVSGLPPPELTWLLNGQ PVLPDASHKMLVRETGVHSLL
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.
Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.
Purevjav E.; Arimura T.; Augustin S.; Huby A.C.; Takagi K.; Nunoda S.; Kearney D.L.; Taylor M.D.; Terasaki F.; Bos J.M.; Ommen S.R.; Shibata H.; Takahashi M.; Itoh-Satoh M.; McKenna W.J.; Murphy R.T.; Labeit S.; Yamanaka Y.; Machida N.; Park J.E.; Alexander P.M.; Weintraub R.G.; Kitaura Y.; Ackerman M.J.; Kimura A.; Towbin J.A.;
Hum. Mol. Genet. 21:2039-2053(2012)
Cited for: INVOLVEMENT IN RCM4; VARIANTS CMH22 CYS-20; ARG-153; GLU-217; ALA-410; THR-841; LEU-1112 AND PRO-1265; VARIANTS CMD1KK CYS-20; VAL-213; PHE-339; THR-611; THR-882 AND LEU-954; VARIANTS ALA-393; LYS-467; LYS-614; LEU-628; ASN-691; ASN-707; ARG-803; ARG-804; GLN-955; THR-1135; ILE-1161 AND GLY-1306; CHARACTERIZATION OF VARIANT CMH22 CYS-20;
Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.
Duboscq-Bidot L.; Xu P.; Charron P.; Neyroud N.; Dilanian G.; Millaire A.; Bors V.; Komajda M.; Villard E.;
Cardiovasc. Res. 77:118-125(2008)
Cited for: VARIANTS CMD1KK HIS-1088; LEU-1112 AND MET-1195; CHARACTERIZATION OF VARIANTS CMD1KK LEU-1112 AND MET-1195;
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.