Variant position: 318 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 952 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 YLALEDGGSAHGVFLLNSNA MDVVLQPSPALSWRSTGGILD
Mouse YLALEDGGLAHGVFLLNSNA MDVILQPSPALTWRSTGGILD
Rat YLALEDGGLAHGVFLLNSNA MDVVLQPSPALTWRSTGGILD
Bovine YLVLEDGGLAHGVFLLNSNA MDVVLQPSPALSWRSTGGILD
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
70 – 952 Lysosomal alpha-glucosidase
123 – 952 76 kDa lysosomal alpha-glucosidase
204 – 952 70 kDa lysosomal alpha-glucosidase
318 – 323
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
Zhong N.; Martiniuk F.; Tzall S.; Hirschhorn R.;
Am. J. Hum. Genet. 49:635-645(1991)
Cited for: VARIANT GSD2 THR-318;
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.