Variant position: 248 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 260 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 PISFVDRVYGESKLGGNEIV SFLKGLLTLFATT-----------------------------
Mouse PISFVDRVYGESKLGGNEIV SFLKGLLTLFATT
Pig PISFVDRVYGESKLGGNEIV SFLKGLLTLFATT
Bovine PISFVDRVYGESKLGGNEIV SFLKGLLTLFATT
Drosophila PITFVDRIYGTSKLGGTEII QFAKNLLYLFATT
Slime mold PITFVDRIFGVSNLDSGEIV GFLKSVLNLFMNI
Baker's yeast PFTFGVRTEGESKLSGKVII QYLQQLKELYVFK
Fission yeast PIAFVDRLYGESKLGMDDIL GYLKGVFSLLFI-
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
2 – 260 Dolichol-phosphate mannosyltransferase subunit 1
Congenital disorder of glycosylation (CDG) type Ie. A new patient.
Garcia-Silva M.T.; Matthijs G.; Schollen E.; Cabrera J.C.; Sanchez Del Pozo J.; Herreros M.M.; Simon R.; Maties M.; Hernandez E.M.; Hennet T.; Briones P.;
J. Inherit. Metab. Dis. 27:591-600(2004)
Cited for: VARIANT CDG1E PRO-248;
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