UniProtKB/Swiss-Prot Q9UNA4: Variant p.Arg96Gly

DNA polymerase iota
Gene: POLI
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Variant information Variant position:

96 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 Glycine (G) at position 96 (R96G, p.Arg96Gly). 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 glycine (G) 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:

Large decrease in catalytic activity efficiency which is partially rescued by the presence of Mn(2+) instead Mg(2+). Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs3218778 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KDKPLGVQQKYLVVTCNYEA R KLGVKKLMNVRDAKEKCPQL 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                         KDKPLGVQQKYLVVTCNYEARKLGVKKLMNVRDAKEKCPQL

Mouse                         KDRPLGVQQKYLVVTCNYEARKLGVRKLMNVRDAKEKCPQL

Drosophila                    RSKALGIQQKNIVVTCNYVARAKGVTKLMLIAEAQRICPDL

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 – 740	DNA polymerase iota
Domain	55 – 268	UmuC
Binding site	96 – 96
Helix	93 – 96

Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLY-96; MET-261; LYS-276; ARG-474; SER-532 AND ARG-560; Kinetic and Structural Impact of Metal Ions and Genetic Variations on Human DNA Polymerase iota.
Choi J.Y.; Patra A.; Yeom M.; Lee Y.S.; Zhang Q.; Egli M.; Guengerich F.P.;
J. Biol. Chem. 291:21063-21073(2016)
Cited for: X-RAY CRYSTALLOGRAPHY (2.49 ANGSTROMS) OF 26-445 IN COMPLEXES WITH DNA; MAGNESIUM AND MANGANESE; CATALYTIC ACTIVITY; COFACTOR; DOMAIN; MUTAGENESIS OF 1-MET--ALA-25; VARIANT GLY-96;

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.