Variant position: 226 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 ARHRASEMPQAFLFDVIYEA YQQCSDYDLEFGTECLQLALK
Mouse AKHRASEMPQAFLFDVIYEA YQQCSDFDLEFGTECLQLALK
Rat AKHRASEMPQAFHFDVIYEA YQKCSDFDLEFGTECLQLALK
Bovine ARYRASEMPQAFLFDVIYDA YQQCSDYDLEFGTECLHLALK
Xenopus tropicalis ARHRASEMPQAFQYDVIYRA YLQCTDYDLDFGTECLHLALQ
Zebrafish AKYRASEMPQGFLYDIIFQA YQRCSEFDLEFGTECLHLALQ
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
179 – 228 Missing. In isoform 2.
219 – 228
ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
Cirak S.; Foley A.R.; Herrmann R.; Willer T.; Yau S.; Stevens E.; Torelli S.; Brodd L.; Kamynina A.; Vondracek P.; Roper H.; Longman C.; Korinthenberg R.; Marrosu G.; Nuernberg P.; Michele D.E.; Plagnol V.; Hurles M.; Moore S.A.; Sewry C.A.; Campbell K.P.; Voit T.; Muntoni F.;
Cited for: VARIANTS MDDGC7 THR-53; LEU-149; 215-GLN--ALA-451 DEL; CYS-226; VAL-372 DEL AND 395-ARG--ALA-451 DEL; VARIANT MDDGA7 HIS-126;
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