Variant position: 227 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 536 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 AQRPVSLLASPWTSPTWLKT NGAVNGKGSLKGQPGDIYHQT
Chimpanzee AQRPVSLLASPWTSPTWLKT NGAVNGKGSLKGQPGDIYHQT
Mouse SSRPISLFASPWTSPTWLKT NGRVNGKGSLKGQPGDIFHQT
Pig AQRPVSLFASPWTSPTWLKT NGAVNGKGTLKGHPGDRYHQT
Bovine ANRSVSLFASPWTSPTWLKT NGAVNGKGTLKGQAGDLYHKT
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
40 – 536 Lysosomal acid glucosylceramidase
225 – 227
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
Kim J.-W.; Liou B.B.; Lai M.-Y.; Ponce E.; Grabowski G.A.;
Hum. Mutat. 7:214-218(1996)
Cited for: VARIANTS GD LEU-54; GLU-85 AND SER-227;
Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients.
Choy F.Y.M.; Humphries M.L.; Shi H.;
Am. J. Med. Genet. 71:172-178(1997)
Cited for: VARIANTS GD VAL-76; GLU-85; TRP-87; TRP-159; SER-227; ILE-252 AND PRO-483;
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Koprivica V.; Stone D.L.; Park J.K.; Callahan M.; Frisch A.; Cohen I.J.; Tayebi N.; Sidransky E.;
Am. J. Hum. Genet. 66:1777-1786(2000)
Cited for: VARIANTS GD TRP-87; ASN-118; THR-129; ASP-156; GLN-159; TRP-159; LEU-170; ILE-173; CYS-209; PRO-209; SER-227; THR-229; PRO-235; ARG-241; ILE-252; GLN-296; CYS-324; THR-380; MET-408; SER-409; SER-416; LEU-433; TYR-438; HIS-448; PRO-483 AND CYS-502; VARIANT LYS-365; VARIANT GD2 GLN-159;
Functional analysis of 11 novel GBA alleles.
Malini E.; Grossi S.; Deganuto M.; Rosano C.; Parini R.; Dominisini S.; Cariati R.; Zampieri S.; Bembi B.; Filocamo M.; Dardis A.;
Eur. J. Hum. Genet. 22:511-516(2014)
Cited for: VARIANTS GD1 SER-198; THR-284; SER-351; LYS-365; ARG-405; ASN-419 AND CYS-420; CHARACTERIZATION OF VARIANTS GD1 SER-198; THR-284; SER-351; LYS-365; ARG-405; SER-409; ASN-419 AND CYS-420; VARIANTS GD2 ILE-227 AND LYS-274; CHARACTERIZATION OF VARIANTS GD2 ILE-227 AND LYS-274; VARIANTS GD3 SER-227 AND ARG-304; CHARACTERIZATION OF VARIANTS GD3 SER-227 AND ARG-304;
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