Variant position: 22 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 KALILVGGYGTRLRPLTLST PKPLVDFCNKPILLHQVEALA
Mouse KALILVGGYGTRLRPLTLST PKPLVDFCNKPILLHQVEALA
Pig KALILVGGYGTRLRPLTLSI PKPLVDFCNKPILLHQVEALA
Bovine KALILVGGYGTRLRPLTLSI PKPLADFCNKPILLHQVEALA
Xenopus tropicalis KALILVGGYGTRLRPLTLSV PKPLVDFCNKPILLHQVEALV
Zebrafish KALILVGGYGTRLRPLTLTV PKPLVEFCNKPILLHQVEALV
Caenorhabditis elegans KALILVGGYGTRLRPLTLTQ PKPLVEFANKPMMLHQMEALA
Drosophila RALILVGGYGTRLRPLTLST PKPLVEFANKPILLHQLEALV
Slime mold KALILVGGFGTRLRPLTLSK PKPIVEFANKAMILHQIEALC
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
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of alpha-dystroglycan.
Carss K.J.; Stevens E.; Foley A.R.; Cirak S.; Riemersma M.; Torelli S.; Hoischen A.; Willer T.; van Scherpenzeel M.; Moore S.A.; Messina S.; Bertini E.; Boennemann C.G.; Abdenur J.E.; Grosmann C.M.; Kesari A.; Punetha J.; Quinlivan R.; Waddell L.B.; Young H.K.; Wraige E.; Yau S.; Brodd L.; Feng L.; Sewry C.; MacArthur D.G.; North K.N.; Hoffman E.; Stemple D.L.; Hurles M.E.; van Bokhoven H.; Campbell K.P.; Lefeber D.J.; Lin Y.Y.; Muntoni F.;
Am. J. Hum. Genet. 93:29-41(2013)
Cited for: SUBCELLULAR LOCATION; VARIANT MDDGA14 ASN-334; VARIANTS MDDGB14 LEU-32; CYS-185 AND GLN-287; VARIANTS MDDGC14 SER-22; HIS-27 AND ILE-330; CHARACTERIZATION OF VARIANT MDDGA14 ASN-334; CHARACTERIZATION OF VARIANTS MDDGB14 LEU-32; CYS-185 AND GLN-287; CHARACTERIZATION OF VARIANTS MDDGC14 SER-22; HIS-27 AND ILE-330;
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.