Variant position: 322 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 360 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 WLESCIVGWRCRVGQWVRME NVTVLGEDVIVNDELYLNGAS
Mouse WLESCIVGWRCRVGQWVRME NVTVLGEDVIVNDELYLNGAS
Pig WLESCIVCWRCRVGQWVRME NVTVLGEDVIVNDELYLNGAS
Bovine WLESCIVGWRCRVGQWVRME NVTVLGEDVIVNDELYLNGAS
Xenopus tropicalis WLESSIVGWSSSVGQWVRME NVTVLGEDVIVNDELYLNGAN
Zebrafish WLESCIVGWSSSVGQWVRME NVTVLGEDVIVNDELYINGAN
Caenorhabditis elegans WVSGSIVGRKCHIGSWVRIE NICVIGDDVVVKDELYLNGAS
Drosophila WLDSCIVGWRSTVGRWVRIE GITVLGEDVIVKDELYINGGQ
Slime mold WIKSTIIGWNSSIGKWVRME NTSVLGEDVHVSDELYINGGK
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 – 360 Mannose-1-phosphate guanyltransferase beta
317 – 317 W -> WVSLWAGLGGERGGECACLPDKAYPLLE. In isoform 2.
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital syndrome.
Luo S.; Cai S.; Maxwell S.; Yue D.; Zhu W.; Qiao K.; Zhu Z.; Zhou L.; Xi J.; Lu J.; Beeson D.; Zhao C.;
Neuromuscul. Disord. 27:557-564(2017)
Cited for: VARIANTS MDDGC14 TRP-293; LYS-322; ARG-340 AND HIS-357; CHARACTERIZATION OF VARIANTS MDDGC14 TRP-293; LYS-322; ARG-340 AND HIS-357;
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.