Variant position: 104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 418 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 KLNYTTEECDMKKMHYVDPD HVKRAQKYAQQVLQKECRPKF
Chimpanzee KLNYTTEECDMKKMHYVDPD RVKRAQTYAQQVLQKECRPKF
Mouse ILNYTAEECDMKRMHYVDPD RIKRAQSYAQEVLQKECRPRY
Rat KLNYTAEECDMKKLNYVDPA RIKRAHRNTQEVFQKECRPGH
Bovine KLNHTTEECDMKRMPYMDPD RIKRAQQYAQQVLQKECRPQF
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
1 – 418 Lactosylceramide alpha-2,3-sialyltransferase
83 – 418 Lumenal
86 – 86 N-linked (GlcNAc...) asparagine
Expression cloning and functional characterization of human cDNA for ganglioside GM3 synthase.
Ishii A.; Ohta M.; Watanabe Y.; Matsuda K.; Ishiyama K.; Sakoe K.; Nakamura M.; Inokuchi J.; Sanai Y.; Saito M.;
J. Biol. Chem. 273:31652-31655(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-104; CHARACTERIZATION; FUNCTION; CATALYTIC ACTIVITY; TISSUE SPECIFICITY;
Molecular cloning and expression of ceramide galactosyltransferases. Comparison with other glycosyltransferases.
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ARG-104;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ARG-104;
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