UniProtKB/Swiss-Prot P50461: Variant p.Gly72Arg

Cysteine and glycine-rich protein 3
Gene: CSRP3
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Variant information Variant position:

72 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Glycine (G) to Arginine (R) at position 72 (G72R, p.Gly72Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

In CMD1M; uncertain significance; increases PKC/PRKCA activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs45552933 [ dbSNP | Ensembl ]

Sequence information Variant position:

72 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:

HESEIYCKVCYGRRYGPKGI G YGQGAGCLSTDTGEHLGLQF 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                         HESEIYCKVCYGRRYGPKGIGYGQGAGCLSTDTGEHLGLQF

Mouse                         HESEIYCKVCYGRRYGPKGIGFGQGAGCLSTDTGEHLGLQF

Rat                           HESEIYCKVCYGRKYGPKGIGFGQGAGCLSTDTGEHLGLQF

Bovine                        HESEIYCKVCYGRRYGPKGIGYGQGAGCLSTDTGEHLGLQF

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
Chain	1 – 194	Cysteine and glycine-rich protein 3
Alternative sequence	60 – 194	Missing. In isoform 2.
Mutagenesis	69 – 69	K -> R. Increases PKC/PRKCA activity.

Literature citations
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-SER-GLU-55 DELINS ARG-GLY AND GLY-58; CHARACTERIZATION OF VARIANT ARG-72; MUTAGENESIS OF LYS-69; Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.
Hershberger R.E.; Parks S.B.; Kushner J.D.; Li D.; Ludwigsen S.; Jakobs P.; Nauman D.; Burgess D.; Partain J.; Litt M.;
Clin. Transl. Sci. 1:21-26(2008)
Cited for: VARIANT CMD1M ARG-72;

Disclaimer: 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.