Variant position: 106 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 305 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 FHNVTQHEQTFRWNAYSGIL GIWHEWEIANNTFTGMWMRDG
Mouse FHNVTQHEQTFRWNAYSGIL GIWHEWEIINNTFKGMWMTDG
Bovine FHNVTQHEQTFRWNAYSGIL GIWHEWEITNNTFRGMWMRDG
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
25 – 305 N-acetylglucosamine-1-phosphotransferase subunit gamma
69 – 126 PRKCSH
88 – 88 N-linked (GlcNAc...) asparagine
115 – 115 N-linked (GlcNAc...) asparagine
Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis III.
Raas-Rothschild A.; Bargal R.; Goldman O.; Ben-Asher E.; Groener J.E.; Toutain A.; Stemmer E.; Ben-Neriah Z.; Flusser H.; Beemer F.A.; Penttinen M.; Olender T.; Rein A.J.; Bach G.; Zeigler M.;
J. Med. Genet. 41:E52-E52(2004)
Cited for: INVOLVEMENT IN MLIIIC; VARIANT MLIIIC SER-106;
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
Persichetti E.; Chuzhanova N.A.; Dardis A.; Tappino B.; Pohl S.; Thomas N.S.; Rosano C.; Balducci C.; Paciotti S.; Dominissini S.; Montalvo A.L.; Sibilio M.; Parini R.; Rigoldi M.; Di Rocco M.; Parenti G.; Orlacchio A.; Bembi B.; Cooper D.N.; Filocamo M.; Beccari T.;
Hum. Mutat. 30:978-984(2009)
Cited for: VARIANTS MLIIIC SER-106 AND ASN-115 DEL; VARIANT MET-286;
Mucolipidosis III GNPTG missense mutations cause misfolding of the gamma subunit of GlcNAc-1-phosphotransferase.
van Meel E.; Kornfeld S.;
Hum. Mutat. 37:623-626(2016)
Cited for: CHARACTERIZATION OF VARIANT MLIIIC SER-106 AND TYR-142; CHARACTERIZATION OF VARIANT MET-286; SUBCELLULAR LOCATION;
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