UniProtKB/Swiss-Prot Q8NHY0: Variant p.Cys466Arg

N-acetylneuraminylgalactosylglucosyl-glucoside beta-1,4-N- acetylgalactosaminyltransferase 2
Gene: B4GALNT2
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Variant information Variant position:

466 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 Cysteine (C) to Arginine (R) at position 466 (C466R, p.Cys466Arg). 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 (C) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

The Sd(a) antigen on red blood cells defines the SID blood group system. There is considerable variability in the strength of antigen expression, ranging from ordinary Sd(a+) to strong Sd(a++) expression [MIM:615018]. Lack of Sd(a) antigen results in the Sd(a-) phenotype, due to genetic variants in B4GALNT2. Additional information on the polymorphism described.
Variant description:

Found in individuals with Sd(a-) phenotype; loss of Sd(a) epitope biosynthesis; loss of homodimer formation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs7224888 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NGACLHKRMGFFQPLDGFPS C VVTSGVVNFFLAHTERLQRV 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                         NGACLHKRMGFFQPLDGFPSCVVTSGVVNFFLAHTERLQRV

Mouse                         NGSCLHQRWGSFQALDGFPGCTLTSGVVNFFLAHTEQLRRV

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 – 566	N-acetylneuraminylgalactosylglucosyl-glucoside beta-1,4-N- acetylgalactosaminyltransferase 2
Topological domain	89 – 566	Lumenal

Literature citations
Glycoproteomic and Phenotypic Elucidation of B4GALNT2 Expression Variants in the SID Histo-Blood Group System.
Stenfelt L.; Nilsson J.; Hellberg A.; Liew Y.W.; Morrison J.; Larson G.; Olsson M.L.;
Int. J. Mol. Sci. 23:0-0(2022)
Cited for: FUNCTION; SUBUNIT; CATALYTIC ACTIVITY; PATHWAY; CHARACTERIZATION OF VARIANTS ARG-436; ARG-466 AND TRP-523;
Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a-) phenotype.
Stenfelt L.; Hellberg A.; Moeller M.; Thornton N.; Larson G.; Olsson M.L.;
Biochem. Biophys. Rep. 19:100659-100659(2019)
Cited for: VARIANTS ARG-436; ARG-466 AND TRP-523; INVOLVEMENT IN SDPS; POLYMORPHISM;

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.