Variant position: 46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 417 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 CSVPSAQEPLVNGIQVLMEN SVTSSAYPNPSILIAMNLAGA
Mouse CSVPPDQQPWVDGLQALMEN SVTDSDFPNPSILIAMNLAGA
Rat CSVPPDQQPWVNGLQLLMEN SVTESDLPNPSILIAMNLAST
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
19 – 417 Cobalamin binding intrinsic factor
26 – 246
Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene.
Tanner S.M.; Li Z.; Perko J.D.; Oener C.; Cetin M.; Altay C.; Yurtsever Z.; David K.L.; Faivre L.; Ismail E.A.; Graesbeck R.; de la Chapelle A.;
Proc. Natl. Acad. Sci. U.S.A. 102:4130-4133(2005)
Cited for: VARIANT IFD LEU-46; VARIANTS ARG-23 AND SER-255;
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