Variant position: 58 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 194 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 MACRKALDSTTVAAHESEIY CKVCYGRRYGPKGIGYGQGAG
Mouse MACRKALDSTTVAAHESEIY CKVCYGRRYGPKGIGFGQGAG
Rat MACRKALDSTTVAAHESEIY CKVCYGRKYGPKGIGFGQGAG
Bovine MACRKALDSTTVAAHESEIY CKVCYGRRYGPKGIGYGQGAG
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 – 194 Cysteine and glycine-rich protein 3
10 – 61 LIM zinc-binding 1
Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.
Geier C.; Perrot A.; Ozcelik C.; Binner P.; Counsell D.; Hoffmann K.; Pilz B.; Martiniak Y.; Gehmlich K.; van der Ven P.F.M.; Furst D.O.; Vornwald A.; von Hodenberg E.; Nurnberg P.; Scheffold T.; Dietz R.; Osterziel K.J.;
Cited for: VARIANTS CMH12 PRO-44; 54-ARG-GLY-55 AND GLY-58;
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
Geier C.; Gehmlich K.; Ehler E.; Hassfeld S.; Perrot A.; Hayess K.; Cardim N.; Wenzel K.; Erdmann B.; Krackhardt F.; Posch M.G.; Osterziel K.J.; Bublak A.; Nagele H.; Scheffold T.; Dietz R.; Chien K.R.; Spuler S.; Furst D.O.; Nurnberg P.; Ozcelik C.;
Hum. Mol. Genet. 17:2753-2765(2008)
Cited for: CHARACTERIZATION OF VARIANT CMD1M ARG-4; VARIANT CMH12 GLY-58; SUBCELLULAR LOCATION;
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.