Variant position: 216 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 DGCLDYSLERARHRASEMPQ AFLFDVIYEAYQQCSDYDLEF
Mouse DGHLDHSLDRAKHRASEMPQ AFLFDVIYEAYQQCSDFDLEF
Rat DGHLDHSLDRAKHRASEMPQ AFHFDVIYEAYQKCSDFDLEF
Bovine DSCLDHSLERARYRASEMPQ AFLFDVIYDAYQQCSDYDLEF
Xenopus tropicalis DGFLDYSLERARHRASEMPQ AFQYDVIYRAYLQCTDYDLDF
Zebrafish ESYLDHSLERAKYRASEMPQ GFLYDIIFQAYQRCSEFDLEF
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 Isoprenoid synthase domain-containing protein
205 – 205 Positions substrate for the nucleophilic attack
179 – 228 Missing. In isoform 2.
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan.
Roscioli T.; Kamsteeg E.J.; Buysse K.; Maystadt I.; van Reeuwijk J.; van den Elzen C.; van Beusekom E.; Riemersma M.; Pfundt R.; Vissers L.E.; Schraders M.; Altunoglu U.; Buckley M.F.; Brunner H.G.; Grisart B.; Zhou H.; Veltman J.A.; Gilissen C.; Mancini G.M.; Delree P.; Willemsen M.A.; Ramadza D.P.; Chitayat D.; Bennett C.; Sheridan E.; Peeters E.A.; Tan-Sindhunata G.M.; de Die-Smulders C.E.; Devriendt K.; Kayserili H.; El-Hashash O.A.; Stemple D.L.; Lefeber D.J.; Lin Y.Y.; van Bokhoven H.;
Nat. Genet. 44:581-585(2012)
Cited for: VARIANTS MDDGA7 PRO-122; HIS-126 AND ASP-216; FUNCTION;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.