Variant position: 142 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 WMRDGDACRSRSRQSKVELA CGKSNRLAHVSEPSTCVYALT
Mouse WMTDGDSCHSRSRQSKVELT CGKINRLAHVSEPSTCVYALT
Bovine WMRDGDACQSRSRQSKVELT CGKSNRLAHVSEPSTCVYALT
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
Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma.
Liu S.; Zhang W.; Shi H.; Meng Y.; Qiu Z.;
Cited for: VARIANT MLIIIC TYR-142;
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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