Variant position: 152 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 IRKQKEGNFDIVSGTRYKGN GGV-YGWDLKRKIISRGANFLT
Mouse IRKQKEGNFDIVSGTRYKGN GGV-YGWDLKRKIISRGANFI
Pig IRKQKEGNFDIVSGTRYKGN GGV-YGWDLKRKIISRGANFI
Bovine IRKQKEGNFDIVSGTRYKGN GGV-YGWDLKRKIISRVANFI
Drosophila IKLQQEGNYDIVSGTRYAGN GGV-FGWDFKRKLISRGANFL
Slime mold IEKQKKLNCEIVTGTRYQSG GGV-FGWNLYRKLTSRVANYI
Baker's yeast FESLHDHAFTL--GTRYAPG VGIDKDWPMYRRVISSTARMM
Fission yeast IKLQKEHNYDIVLGTRYAKD GGV-YGWNLKRKFISRGANLL
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 due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Yang A.C.; Ng B.G.; Moore S.A.; Rush J.; Waechter C.J.; Raymond K.M.; Willer T.; Campbell K.P.; Freeze H.H.; Mehta L.;
Mol. Genet. Metab. 110:345-351(2013)
Cited for: VARIANT CDG1E VAL-152; CHARACTERIZATION OF VARIANT CDG1E VAL-152;
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