Variant position: 340 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 MENVTVLGEDVIVNDELYLN GASVLPHKSIGESVPEPRIIM
Mouse MENVTVLGEDVIVNDELYLN GASVLPHKSIGESVPEPRIIM
Pig MENVTVLGEDVIVNDELYLN GASVLPHKSIGESVPEPGIIM
Bovine MENVTVLGEDVIVNDELYLN GASVLPHKSIGESVPEPRIIM
Xenopus tropicalis MENVTVLGEDVIVNDELYLN GANVLPHKCISESVPEPRIIM
Zebrafish MENVTVLGEDVIVNDELYIN GANVLPHKSITDSVPEPRIIM
Caenorhabditis elegans IENICVIGDDVVVKDELYLN GASVLPHKSIAVNVPSKDIIM
Drosophila IEGITVLGEDVIVKDELYIN GGQVLPHKSIAASVPEPQIIM
Slime mold MENTSVLGEDVHVSDELYIN GGKILPHKSITSSIPEPEIIM
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
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;
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