Variant position: 230 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 PVSLLASPWTSPTWLKTNGA VNGKGSLKGQPGDIYHQTWAR
Chimpanzee PVSLLASPWTSPTWLKTNGA VNGKGSLKGQPGDIYHQTWAR
Mouse PISLFASPWTSPTWLKTNGR VNGKGSLKGQPGDIFHQTWAN
Pig PVSLFASPWTSPTWLKTNGA VNGKGTLKGHPGDRYHQTWAK
Bovine SVSLFASPWTSPTWLKTNGA VNGKGTLKGQAGDLYHKTWAR
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.
A novel transcript from a pseudogene for human glucocerebrosidase in non-Gaucher disease cells.
Imai K.; Nakamura M.; Yamada M.; Asano A.; Yokoyama S.; Tsuji S.; Ginns E.I.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND 3); VARIANTS GD ARG-223; GLY-230; PRO-235; ARG-241; ILE-252 AND ARG-364; VARIANTS GLY-310 AND HIS-368;
A novel mutation (V191G) in a German-British type 1 Gaucher disease patient.
Choy F.Y.M.; Humphries M.L.; Ben-Yoseph Y.;
Hum. Mutat. 11:411-412(1998)
Cited for: VARIANTS GD1 GLY-230 AND SER-409;
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