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UniProtKB/Swiss-Prot Q53ET0: Variant p.Arg379Cys

CREB-regulated transcription coactivator 2
Gene: CRTC2
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.

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.

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.





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.

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)

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)

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.