Variant position: 986 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1256 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 MQELQDMFPEEFDKTSFHKV RHSEDMQFAFSYFYYLMSAVQ
Mouse MQELQDMFPEEFDKTSFHKV RHSEDMQFAFSYFYYLMSAVQ
Zebrafish MQELQDTFPQEFDKTSSHRV RHSEDMQFAFSYFYFLMSAVQ
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
929 – 1256 N-acetylglucosamine-1-phosphotransferase subunit beta
491 – 1256 Missing. In isoform 2.
Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
Qian Y.; van Meel E.; Flanagan-Steet H.; Yox A.; Steet R.; Kornfeld S.;
J. Biol. Chem. 290:3045-3056(2015)
Cited for: CHARACTERIZATION OF VARIANTS MLII LEU-81; ASP-182; PRO-205; LEU-334; LEU-348; LEU-374; ASN-732; ARG-928; VAL-955; CYS-986; PRO-1001; VAL-1054 AND MET-1236; CHARACTERIZATION OF VARIANTS MLIIIA GLN-4; TYR-15; VAL-190; GLN-334; PHE-399; THR-403; ALA-407; TYR-442; GLY-461; SER-468; TYR-505; PRO-587; PRO-926; TYR-956; GLY-1018 AND SER-1153; CHARACTERIZATION OF VARIANTS ARG-523; THR-592 AND TRP-785;
Mucolipidosis type II alpha/beta with a homozygous missense mutation in the GNPTAB gene.
Coutinho M.F.; Santos L.S.; Girisha K.M.; Satyamoorthy K.; Lacerda L.; Prata M.J.; Alves S.;
Am. J. Med. Genet. A 158A:1225-1228(2012)
Cited for: VARIANT MLII CYS-986;
Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).
De Pace R.; Coutinho M.F.; Koch-Nolte F.; Haag F.; Prata M.J.; Alves S.; Braulke T.; Pohl S.;
Hum. Mutat. 35:368-376(2014)
Cited for: VARIANTS MLII LEU-81; CYS-986 AND MET-1236; VARIANT MLIIIA PHE-399; CHARACTERIZATION OF VARIANTS MLII LEU-81; CYS-986 AND MET-1236; CHARACTERIZATION OF VARIANT MLIIIA PHE-399; SUBCELLULAR LOCATION; PROTEOLYTIC PROCESSING; GLYCOSYLATION;
Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.
Cobos P.N.; Steglich C.; Santer R.; Lukacs Z.; Gal A.;
JIMD Rep. 15:123-132(2015)
Cited for: VARIANT MLII CYS-986; VARIANT ARG-523;
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.