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UniProtKB/Swiss-Prot Q10471: Variant p.Arg210Pro

Polypeptide N-acetylgalactosaminyltransferase 2
Gene: GALNT2
Variant information

Variant position:  210
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Proline (P) at position 210 (R210P, p.Arg210Pro).
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 medium size and hydrophobic (P)
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:  In CDG2T; loss of ApoC-III glycosylation.
Any additional useful information about the variant.



Sequence information

Variant position:  210
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  571
The length of the canonical sequence.

Location on the sequence:   IEKVRVLRNDRREGLMRSRV  R GADAAQAKVLTFLDSHCECN
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                         IEKVRVLRNDRREGLMRSRVRGADAAQAKVLTFLDSHCECN

Mouse                         IEKVRVLRNDRREGLMRSRVRGADAAQAKVLTFLDSHCECN

Drosophila                    IDKVRVIRNDKREGLVRSRVKGADAAVSSVLTFLDSHVECN

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.

TypePositionsDescription
Chain 1 – 571 Polypeptide N-acetylgalactosaminyltransferase 2
Chain 52 – 571 Polypeptide N-acetylgalactosaminyltransferase 2 soluble form
Topological domain 25 – 571 Lumenal
Region 135 – 240 Catalytic subdomain A
Metal binding 224 – 224 Manganese
Metal binding 226 – 226 Manganese
Binding site 201 – 201 Substrate
Binding site 225 – 225 Substrate
Disulfide bond 126 – 354
Helix 204 – 214


Literature citations

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.
Zilmer M.; Edmondson A.C.; Khetarpal S.A.; Alesi V.; Zaki M.S.; Rostasy K.; Madsen C.G.; Lepri F.R.; Sinibaldi L.; Cusmai R.; Novelli A.; Issa M.Y.; Fenger C.D.; Abou Jamra R.; Reutter H.; Briuglia S.; Agolini E.; Hansen L.; Petaejae-Repo U.E.; Hintze J.; Raymond K.M.; Liedtke K.; Stanley V.; Musaev D.; Gleeson J.G.; Vitali C.; O'Brien W.T.; Gardella E.; Rubboli G.; Rader D.J.; Schjoldager K.T.; Moeller R.S.;
Brain 143:1114-1126(2020)
Cited for: VARIANTS CDG2T 200-ARG--GLN-571 DEL; PRO-210 AND 289-GLN--GLN-571 DEL; CHARACTERIZATION OF VARIANTS CDG2T 200-ARG--GLN-571 DEL; PRO-210 AND 289-GLN--GLN-571 DEL; VARIANTS ARG-271 AND VAL-493; CHARACTERIZATION OF VARIANTS ARG-271 AND VAL-493; FUNCTION;

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.