UniProtKB/Swiss-Prot Q9HC16: Variant p.Gln275Glu

DNA dC->dU-editing enzyme APOBEC-3G
Gene: APOBEC3G
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Variant information Variant position:

275 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 Glutamine (Q) to Glutamate (E) at position 275 (Q275E, p.Gln275Glu). 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 medium size and polar (Q) to medium size and acidic (E) 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
Other resources:

Links to websites of interest for the variant.

Variant rs17496046 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GRHAELCFLDVIPFWKLDLD Q DYRVTCFTSWSPCFSCAQEM 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                         GRHAELCFLDVIPFWKLDLDQDYRVTCFTSWSPCFSCAQEM

Gorilla                       GRHAELCFLDVIPFWKLDLHQDYRVTCFTSWSPCFSCAQEM

Rhesus macaque                GRHAELCFLDLIPFWKLD-GQQYRVTCFTSWSPCFSCAQEM

Chimpanzee                    GRHAELCFLDVIPFWKLDLHQDYRVTCFTSWSPCFSCAQEM

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 – 384	DNA dC->dU-editing enzyme APOBEC-3G
Domain	214 – 328	CMP/dCMP-type deaminase 2
Region	209 – 336	Necessary for homooligomerization
Active site	259 – 259	Proton donor
Binding site	257 – 257
Binding site	288 – 288
Binding site	291 – 291
Cross	270 – 270	(Microbial infection) Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence	80 – 384	Missing. In isoform 3.
Mutagenesis	256 – 256	R -> A. Strongly reduced cytidine deaminase activity.
Mutagenesis	257 – 257	H -> A. Decreases cytidine deaminase activity.
Mutagenesis	259 – 259	E -> A. Loss of cytidine deaminase activity and significant decrease in antiviral activity.
Mutagenesis	259 – 259	E -> A. Loss of cytidine deaminase activity and significant decrease in antiviral activity; when associated with A-67.
Mutagenesis	259 – 259	E -> Q. Decreases cytidine deaminase activity and antiviral activity.
Mutagenesis	264 – 264	D -> A. Nearly abolished cytidine deaminase activity.
Mutagenesis	268 – 268	F -> A. Strongly reduced cytidine deaminase activity.
Mutagenesis	285 – 285	W -> A. Abolishes enzyme activity.
Mutagenesis	288 – 288	C -> A. Decreases cytidine deaminase activity.
Mutagenesis	291 – 291	C -> AS. Decreases cytidine deaminase activity.
Beta strand	273 – 275

Literature citations
Submission
SeattleSNPs program for genomic applications;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-186 AND GLU-275;

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.