Variant position: 104 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:
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 EAYVGGTMVRSGQDPYARNK FNQVESDKLRMDRAIPDTRHD
Mouse EAYVGGTMVRSGQDPYARNK FNQVESDKLHMDRGIPDTRHD
Drosophila AGYIRAGALRNGEDPYIRNR FNQEASDALPSNRDIPDTRNP
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
1 – 571 Polypeptide N-acetylgalactosaminyltransferase 2
52 – 571 Polypeptide N-acetylgalactosaminyltransferase 2 soluble form
25 – 571 Lumenal
Loss of function of GALNT2 lowers high-density lipoproteins in humans, nonhuman primates, and rodents.
Khetarpal S.A.; Schjoldager K.T.; Christoffersen C.; Raghavan A.; Edmondson A.C.; Reutter H.M.; Ahmed B.; Ouazzani R.; Peloso G.M.; Vitali C.; Zhao W.; Somasundara A.V.; Millar J.S.; Park Y.; Fernando G.; Livanov V.; Choi S.; Noe E.; Patel P.; Ho S.P.; Kirchgessner T.G.; Wandall H.H.; Hansen L.; Bennett E.P.; Vakhrushev S.Y.; Saleheen D.; Kathiresan S.; Brown C.D.; Abou Jamra R.; LeGuern E.; Clausen H.; Rader D.J.;
Cell Metab. 24:234-245(2016)
Cited for: VARIANTS CDG2T SER-104 AND 289-GLN--GLN-571 DEL; CHARACTERIZATION OF VARIANTS CDG2T SER-104 AND 289-GLN--GLN-571 DEL; INVOLVEMENT IN CDG2T; FUNCTION;
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.