Variant position: 44 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 QCNGRSFHKTCFHCMACRKA LDSTTVAAHESEIYCKVCYGR
Mouse QCNGRSFHKTCFHCMACRKA LDSTTVAAHESEIYCKVCYGR
Rat QCNGRSFHKTCFHCMACRKA LDSTTVAAHESEIYCKVCYGR
Bovine QCNGRSFHKTCFHCMACRKA LDSTTVAAHESEIYCKVCYGR
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
38 – 59 MACRKALDSTTVAAHESEIYCK -> TLAQDLFPLCHLWEESGVHKC. In isoform 2.
MLP and CARP are linked to chronic PKCalpha signalling in dilated cardiomyopathy.
Lange S.; Gehmlich K.; Lun A.S.; Blondelle J.; Hooper C.; Dalton N.D.; Alvarez E.A.; Zhang X.; Bang M.L.; Abassi Y.A.; Dos Remedios C.G.; Peterson K.L.; Chen J.; Ehler E.;
Nat. Commun. 7:12120-12120(2016)
Cited for: FUNCTION; PHOSPHORYLATION; CHARACTERIZATION OF VARIANTS CMH12 PRO-44; 54-ARG-GLY-55 AND GLY-58; CHARACTERIZATION OF VARIANT ARG-72; MUTAGENESIS OF LYS-69;
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;
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.