Sequence information
Variant position: 271 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:
PIIDVINMDNFQYVGASADL
K GGFDWNLVFKWDYMTPEQRR
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 PIIDVINMDNFQYVGASADLK GGFDWNLVFKWDYMTPEQRR
Mouse PIIDVINMDNFQYVGASADLK GGFDWNLVFKWDYMTPEQRR
Drosophila PVIDVISMDNFQYIGASADLR GGFDWNLIFKWEYLSPSERA
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 – 571
Polypeptide N-acetylgalactosaminyltransferase 2
Chain
52 – 571
Polypeptide N-acetylgalactosaminyltransferase 2 soluble form
Topological domain
25 – 571
Lumenal
Disulfide bond
126 – 354
Mutagenesis
282 – 282
W -> A. Loss of enzyme activity.
Beta strand
270 – 274
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.