UniProtKB/Swiss-Prot Q93070: Variant p.Asp265Asn

Ecto-ADP-ribosyltransferase 4
Gene: ART4
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Variant information Variant position:

265 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 Aspartate (D) to Asparagine (N) at position 265 (D265N, p.Asp265Asn). 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 acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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:

Variations in the ART4 gene are the basis of the Dombrock blood group system (Do). ART4 carries two antithetical antigens (Do(a) and Do(b)) and 3 high-incidence antigens, Gregory (Gy(a)), Holley (Hy), and Joseph (Jo(a)). Do(a) and Do(b) differ by a single variation at position 265, with Asn-265 corresponding to Do(a) and Asp-265 (shown in this entry) to Do(b). Additional information on the polymorphism described.
Variant description:

In Dombrock blood group antigen Do(a). Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs11276 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VLIPPYELFKVINMSYHPRG D WLQLRSTGNLSTYNCQLLKA 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                         VLIPPYELFKVINMSYHPRGDWLQLRSTGNLSTYNCQLLKA

Chimpanzee                    VLIPPYELFKVINMSYHPRGNWLQLRSTGNLSTYNCQLLKA

Mouse                         VLIPPYELFEVVSKSGSPKGDLINLRSAGNMSTYNCQLLKA

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	47 – 285	Ecto-ADP-ribosyltransferase 4
Domain	91 – 276	TR mART core
Lipidation	285 – 285	GPI-anchor amidated alanine
Glycosylation	257 – 257	N-linked (GlcNAc...) asparagine
Glycosylation	274 – 274	N-linked (GlcNAc...) asparagine
Disulfide bond	69 – 280

Literature citations
Identification of the Dombrock blood group glycoprotein as a polymorphic member of the ADP-ribosyltransferase gene family.
Gubin A.N.; Njoroge J.M.; Wojda U.; Pack S.D.; Rios M.; Reid M.E.; Miller J.L.;
Blood 96:2621-2627(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; POLYMORPHISM; VARIANT ASN-265; Insights into the Holley- and Joseph- phenotypes.
Rios M.; Hue-Roye K.; Oyen R.; Miller J.; Reid M.E.;
Transfusion 42:52-58(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; POLYMORPHISM; VARIANTS VAL-108; ILE-117; ASN-265 AND VAL-300; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASN-265; Polymerase chain reaction with sequence-specific primers-based genotyping of the human Dombrock blood group DO1 and DO2 alleles and the DO gene frequencies in Chinese blood donors.
Wu G.-G.; Jin S.-Z.; Deng Z.-H.; Zhao T.-M.;
Vox Sang. 81:49-51(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 49-284; POLYMORPHISM; VARIANT ASN-265;

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.