Variant position: 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 396 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 RPLDQNPGAGLAAVVASCLS SGFAGVYFEKILKGSSGSVWL
Mouse RPLDQNPGAGLAAVVASCLS SGFAGVYFEKILKGSSGSVWL
Bovine RPLDQNPGVGLAAVVASCLS SGFAGVYFEKILKGSSGSVWL
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 – 396 UDP-galactose translocator
200 – 220 Helical
143 – 396 VTYQLKILTTALFSVLMLNRSLSRLQWASLLLLFTGVAIVQAQQAGGGGPRPLDQNPGAGLAAVVASCLSSGFAGVYFEKILKGSSGSVWLRNLQLGLFGTALGLVGLWWAEGTAVATRGFFFGYTPAVWGVVLNQAFGGLLVAVVVKYADNILKGFATSLSIVLSTVASIRLFGFHVDPLFALGAGLVIGAVYLYSLPRGAAKAIASASASASGPCVHQQPPGQPPPPQLSSHRGDLITEPFLPKLLTKVKGS -> PSPRCSQSHSLCLCLRLRALRSPAASRAATTTAAVFPPWRPHHGALSAKVSAGEVRAGSNGGTQGRGTGVEGVGHLQDPSRHPPGPGSSGFGRWSFLPGH. In isoform 3.
De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy.
Kodera H.; Nakamura K.; Osaka H.; Maegaki Y.; Haginoya K.; Mizumoto S.; Kato M.; Okamoto N.; Iai M.; Kondo Y.; Nishiyama K.; Tsurusaki Y.; Nakashima M.; Miyake N.; Hayasaka K.; Sugahara K.; Yuasa I.; Wada Y.; Matsumoto N.; Saitsu H.;
Hum. Mutat. 34:1708-1714(2013)
Cited for: INVOLVEMENT IN CDG2M; VARIANT CDG2M PHE-213;
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.