Variant position: 205 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 451 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 PLVSTVVSPSADGCLDYSLE RARHRASEMPQAFLFDVIYEA
Mouse PLVSTVISPSADGHLDHSLD RAKHRASEMPQAFLFDVIYEA
Rat PLVSTVVSPSADGHLDHSLD RAKHRASEMPQAFHFDVIYEA
Bovine PLVSTVISPSADSCLDHSLE RARYRASEMPQAFLFDVIYDA
Xenopus tropicalis PLVSTVIASSSDGFLDYSLE RARHRASEMPQAFQYDVIYRA
Zebrafish PLVSTVIATTSESYLDHSLE RAKYRASEMPQGFLYDIIFQA
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 – 451 D-ribitol-5-phosphate cytidylyltransferase
205 – 205 Positions substrate for the nucleophilic attack
179 – 228 Missing. In isoform 2.
205 – 207
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
Czeschik J.C.; Hehr U.; Hartmann B.; Luedecke H.J.; Rosenbaum T.; Schweiger B.; Wieczorek D.;
Eur. J. Med. Genet. 56:689-694(2013)
Cited for: VARIANT MDDGA7 HIS-205;
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