Variant position: 484 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 677 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 NITGKAGATLDLLVENMGRV NYGAYINDFKGLVSNLTLSSN
Mouse NIRGKAGATLDILVENMGRV NYGRFINDFKGLISNMTINST
Bovine NITGKAGATLDLLVENMGRV NYGSSINDFKGLVSNLTLGSK
Cat NITGQAGATLDLLVENMGRV NYGRYINDFKGLISNLTLGSS
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
29 – 677 Beta-galactosidase
464 – 464 N-linked (GlcNAc...) asparagine
498 – 498 N-linked (GlcNAc...) asparagine
Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease.
Bagshaw R.D.; Zhang S.; Hinek A.; Skomorowski M.-A.; Whelan D.; Clarke J.T.R.; Callahan J.W.;
Biochim. Biophys. Acta 1588:247-253(2002)
Cited for: VARIANTS MPS4B GLU-438; LYS-484 AND ALA-500;
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.