UniProtKB/Swiss-Prot Q8N5D6: Variant p.Asp200Asn

Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
Gene: GBGT1
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Variant information Variant position:

200 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 200 (D200N, p.Asp200Asn). 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:

Common alleles GBGT1*01N.01 and GBGT1*01N.02 do not synthesize Forssman glycolipid antigen (FORS1). A rare allele encoding an arginine to glutamine change at residue 296 is associated with the ability to synthesize Forssman antigen, which is expressed in erythrocytes and is inheritable, thus defining a new histo-blood group FORS, also known as Apae. This variation might have arised as a consequence of the selective pressure exerted by microorganisms. For instance, the uropathogenic E.coli expressing prsG adhesin only binds and agglutinates FORS1-expressing erythrocytes. Thus, FORS1-positive individuals might be more susceptible to certain pathogens. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs34903033 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SMRRMETISQHIAKRAHREV D YLFCLDVDMVFRNPWGPETL 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                         SMRRMETISQHIAKRAHREVDYLFCLDVDMVFRNPWGPETL

                              STRRMETISRHIAQRAHREVDYLFCVDVDMVFRNPWGPETL

Mouse                         SMRRMETINKHIAKRAHKEVDYLFCVDVDMVFRNPWGPETL

Chicken                       SVRRMEAINLHIAERSHREVDYLFCLDIDMVFHNAWGAETL

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 – 347	Globoside alpha-1,3-N-acetylgalactosaminyltransferase 1
Topological domain	27 – 347	Lumenal
Binding site	206 – 206
Binding site	208 – 208
Alternative sequence	120 – 347	KYTHFIQSFLESAEEFFMRGYRVHYYIFTDNPAAVPGVPLGPHRLLSSIPIQGHSHWEETSMRRMETISQHIAKRAHREVDYLFCLDVDMVFRNPWGPETLGDLVAAIHPSYYAVPRQQFPYERRRVSTAFVADSEGDFYYGGAVFGGQVARVYEFTRGCHMAILADKANGIMAAWREESHLNRHFISNKPSKVLSPEYLWDDRKPQPPSLKLIRFSTLDKDISCLRS -> NPSWSQPRSSSCVGTGCTTTSSLTTLQPFPGSRWVPTGFSAPSPSRVTPTGRRHPCAGWRPSASTLLRGLTGRWTTSSALMWTWCFGTRGALRPWETWWLPFTQATTPFPASSSPMSAGVFPLPLWQTAKGTSIMVGQSSGGRWPGYMSLLGAATWPSWRTRPMASWLPGGRKAT. In isoform 2.

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PHE-20; GLY-21; PRO-79; TRP-163; ASN-200; PRO-238; ILE-248 AND PHE-291;

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.