Variant position: 509 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 INDFKGLVSNLTLSSNILTD WTIFPLDTEDAVRSHLGGWGH
Mouse INDFKGLISNMTINSTVLTN WTVFPLNTEAMVRNHLWGREA
Bovine INDFKGLVSNLTLGSKILTN WEIFPLDMEDAVRSHLGTWGG
Cat INDFKGLISNLTLGSSVLTD WMIFPLDTEDAVRSHLGGWHG
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
498 – 498 N-linked (GlcNAc...) asparagine
509 – 513
Human beta-galactosidase gene mutations in morquio B disease.
Oshima A.; Yoshida K.; Shimmoto M.; Fukuhara Y.; Sakuraba H.; Suzuki Y.;
Am. J. Hum. Genet. 49:1091-1093(1991)
Cited for: VARIANTS MPS4B LEU-273; HIS-482 AND CYS-509; VARIANT GM1G1 CYS-494;
Beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis.
Kaye E.M.; Shalish C.; Livermore J.; Taylor H.A.; Stevenson R.E.; Breakefield X.O.;
J. Child Neurol. 12:242-247(1997)
Cited for: VARIANTS SLOWLY PROGRESSIVE GM1-GANGLIOSIDOSIS HIS-201; SER-266 AND CYS-509;
Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.
Tatano Y.; Takeuchi N.; Kuwahara J.; Sakuraba H.; Takahashi T.; Takada G.; Itoh K.;
J. Med. Invest. 53:103-112(2006)
Cited for: VARIANTS MPS4B LEU-273; HIS-482 AND CYS-509; VARIANTS GM1G1 CYS-201; HIS-201 AND HIS-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.