Variant position: 54 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 SVAGTEPGR-----------HPQA------VAAVLPA GGCGERMGVPTPKQFCPILER
Mouse SVAGAEPGN-----------RPGT------VAAVLPA GGCG
Rat SAAGAEPGS-----------RIGT------VAAVLPA GGCG
Bovine SRFGAEAGC-----------RASA------VAAVLPA GGSG
Xenopus tropicalis ---MDDAAK-----------DLGR------CAVVLPA GGCG
Zebrafish TQRPLDPGCLLPQDAERSADQPGRAVVDFPVAAVLPA GGSG
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
59 – 59 Transition state stabilizer
66 – 66 Transition state stabilizer
Limb-girdle muscular dystrophy with alpha-dystroglycan deficiency and mutations in the ISPD gene.
Tasca G.; Moro F.; Aiello C.; Cassandrini D.; Fiorillo C.; Bertini E.; Bruno C.; Santorelli F.M.; Ricci E.;
Cited for: VARIANTS MDDGC7 ALA-54 AND VAL-372 DEL; INVOLVEMENT IN MDDGC7; CHARACTERIZATION OF VARIANTS MDDGC7 ALA-54 AND VAL-372 DEL;
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