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UniProtKB/Swiss-Prot Q6H8Q1: Variant p.Gly227Arg

Actin-binding LIM protein 2
Gene: ABLIM2
Variant information

Variant position:  227
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 227 (G227R, p.Gly227Arg).
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 a pancreatic ductal adenocarcinoma sample; somatic mutation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  227
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  611
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 1 – 611 Actin-binding LIM protein 2
Domain 210 – 270 LIM zinc-binding 4
Binding site 212 – 212
Binding site 215 – 215
Binding site 232 – 232
Binding site 235 – 235
Binding site 238 – 238
Binding site 241 – 241
Alternative sequence 1 – 243 Missing. In isoform 4.

Literature citations

Core signaling pathways in human pancreatic cancers revealed by global genomic analyses.
Jones S.; Zhang X.; Parsons D.W.; Lin J.C.; Leary R.J.; Angenendt P.; Mankoo P.; Carter H.; Kamiyama H.; Jimeno A.; Hong S.M.; Fu B.; Lin M.T.; Calhoun E.S.; Kamiyama M.; Walter K.; Nikolskaya T.; Nikolsky Y.; Hartigan J.; Smith D.R.; Hidalgo M.; Leach S.D.; Klein A.P.; Jaffee E.M.; Goggins M.; Maitra A.; Iacobuzio-Donahue C.; Eshleman J.R.; Kern S.E.; Hruban R.H.; Karchin R.; Papadopoulos N.; Parmigiani G.; Vogelstein B.; Velculescu V.E.; Kinzler K.W.;
Science 321:1801-1806(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.