Variant position: 226 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 514 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 KGKLPIVNDCDELVAIIART DLKKNRDYPLASKDSQ-KQLLC
Mouse KGKLPIVNDQDELVAIIART DLKKNRDYPLASKDSH-KQLL
Rat KGKLPIVNDQDELVAIIART DLKKNRDYPLASKDSH-KQLL
Bovine KGKLPIVNDRDELVAIIART DLKKNRDYPLASKDSH-KQLL
Xenopus tropicalis KGKLPIVNDSDELVAIIART DLKKNRDYPLASKDCR-KQLL
Zebrafish KGKLPIVNDSDELVAIIART DLKKNRDYPLASKDSR-KQLL
Baker's yeast KGRLLVVDEKGNLVSMLSRT DLMKNQKYPLASKSANTKQLL
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 – 514 Inosine-5'-monophosphate dehydrogenase 1
179 – 237 CBS 2
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
Bowne S.J.; Sullivan L.S.; Blanton S.H.; Cepko C.L.; Blackshaw S.; Birch D.G.; Hughbanks-Wheaton D.; Heckenlively J.R.; Daiger S.P.;
Hum. Mol. Genet. 11:559-568(2002)
Cited for: VARIANTS RP10 ASN-226 AND ILE-268;
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis.
Bowne S.J.; Sullivan L.S.; Mortimer S.E.; Hedstrom L.; Zhu J.; Spellicy C.J.; Gire A.I.; Hughbanks-Wheaton D.; Birch D.G.; Lewis R.A.; Heckenlively J.R.; Daiger S.P.;
Invest. Ophthalmol. Vis. Sci. 47:34-42(2006)
Cited for: VARIANTS RP10 MET-116; ASN-226; ILE-268 AND PRO-372; VARIANTS LCA11 TRP-105 AND LYS-198; VARIANTS THR-285 AND ASP-324; CHARACTERIZATION OF VARIANTS RP10 MET-116 AND PRO-372; CHARACTERIZATION OF VARIANTS LCA11 TRP-105 AND LYS-198; CHARACTERIZATION OF VARIANT ASP-324;
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.