UniProtKB/Swiss-Prot Q53ET0: Variant p.Arg379Cys

CREB-regulated transcription coactivator 2
Gene: CRTC2
Feedback?

Variant information Variant position:

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

LB/B 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 Arginine (R) to Cysteine (C) at position 379 (R379C, p.Arg379Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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
Polymorphism:

Variant Cys-379, under a dominant model, linked to a recessive mutation in LKB1, may be associated with susceptibility to type II or non-insulin-dependent diabetes mellitus (NIDDM). Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs150423770 [ dbSNP | Ensembl ]

Sequence information Variant position:

379 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

693 The length of the canonical sequence.
Location on the sequence:

PQPQLQGSHSHPSLPASSLA R HVLPTTSLGHPSLSAPALSS 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                         PQPQLQGSHSHPSLPASSLARHVLPTTSLGHPSLSAPALSS

Mouse                         PQPQLQGSHSHPSLPASSLAHHALPTTSLGHPSLSAPALSS

Rat                           PQPQLQGSHSHPSLPASSLAHHALPTTSLGHPSLSAPALSS

Bovine                        PQPQLQGSHSHPSLPASSLARHALPTTSLGHPSLSAPALSS

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	2 – 693	CREB-regulated transcription coactivator 2
Region	328 – 554	Disordered
Compositional bias	338 – 414	Polar residues
Modified residue	368 – 368	Phosphoserine
Modified residue	393 – 393	Phosphoserine
Mutagenesis	368 – 368	S -> A. Reduced cAMP- and calcium-regulated phosphorylation.
Mutagenesis	393 – 393	S -> A. No effect on cAMP- and calcium-regulated phosphorylation.

Literature citations
Identification of a family of cAMP response element-binding protein coactivators by genome-scale functional analysis in mammalian cells.
Iourgenko V.; Zhang W.; Mickanin C.; Daly I.; Jiang C.; Hexham J.M.; Orth A.P.; Miraglia L.; Meltzer J.; Garza D.; Chirn G.-W.; McWhinnie E.; Cohen D.; Skelton J.; Terry R.; Yu Y.; Bodian D.; Buxton F.P.; Zhu J.; Song C.; Labow M.A.;
Proc. Natl. Acad. Sci. U.S.A. 100:12147-12152(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT CYS-379; FUNCTION; Single nucleotide polymorphisms in genes encoding LKB1 (STK11), TORC2 (CRTC2) and AMPK alpha2-subunit (PRKAA2) and risk of type 2 diabetes.
Keshavarz P.; Inoue H.; Nakamura N.; Yoshikawa T.; Tanahashi T.; Itakura M.;
Mol. Genet. Metab. 93:200-209(2008)
Cited for: VARIANT CYS-379; INVOLVEMENT IN SUSCEPTIBILITY TO NIDDM;

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.