UniProtKB/Swiss-Prot Q15165: Variant p.Ala148Gly

Serum paraoxonase/arylesterase 2
Gene: PON2
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Variant information Variant position:

148 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 Alanine (A) to Glycine (G) at position 148 (A148G, p.Ala148Gly). 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 small size and hydrophobic (A) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

Ser-311 is associated with an increased risk of cornary heart disease. Additional information on the polymorphism described.
Variant description:

Correlates with elevated mean fasting plasma glucose level. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs12026 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LFVVNHPEFKNTVEIFKFEE A ENSLLHLKTVKHELLPSVND 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                         LFVVNHPEFKNTVEIFKFEEAENSLLHLKTVKHELLPSVND

                              LFVVNHPEFKNTVEIFKFEEEENSLLHLKTIKHELLPSVND

Mouse                         LFVVNHPQFKSTVEIFKFQEEENSLLHLKTIKHELLPSVND

Rat                           LFVVNHPEFKNTVEIFKFQEEENSLLHLKTIKHELLPSVND

Bovine                        LFVVNHPEFKNTVEIFKFEEEENSLLHLKTIKHELLPSVND

Chicken                       LFVVNHPHQKSTVELFKFMEDDNSLVHLKTIRHDLLTSVND

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 – 354	Serum paraoxonase/arylesterase 2
Binding site	167 – 167
Binding site	168 – 168
Disulfide bond	42 – 352

Literature citations
Human PON2 gene at 7q21.3: cloning, multiple mRNA forms, and missense polymorphisms in the coding sequence.
Mochizuki H.; Scherer S.W.; Xi T.; Nickle D.C.; Majer M.; Huizenga J.J.; Tsui L.-C.; Prochazka M.;
Gene 213:149-157(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 50-67; ALTERNATIVE SPLICING; VARIANT GLY-148; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-148 AND LEU-172; Paraoxonase-2 gene (PON2) G148 variant associated with elevated fasting plasma glucose in noninsulin-dependent diabetes mellitus.
Hegele R.A.; Connelly P.W.; Scherer S.W.; Hanley A.J.G.; Harris S.B.; Tsui L.-C.; Zinman B.;
J. Clin. Endocrinol. Metab. 82:3373-3377(1997)
Cited for: VARIANT GLY-148;

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.