Variant position: 224 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 SKKGKLPIVNDCDELVAIIA RTDLKKNRDYPLASKDSQ-KQL
Mouse SKKGKLPIVNDQDELVAIIA RTDLKKNRDYPLASKDSH-KQ
Rat SKKGKLPIVNDQDELVAIIA RTDLKKNRDYPLASKDSH-KQ
Bovine SKKGKLPIVNDRDELVAIIA RTDLKKNRDYPLASKDSH-KQ
Xenopus tropicalis SKKGKLPIVNDSDELVAIIA RTDLKKNRDYPLASKDCR-KQ
Zebrafish SKKGKLPIVNDSDELVAIIA RTDLKKNRDYPLASKDSR-KQ
Baker's yeast IKKGRLLVVDEKGNLVSMLS RTDLMKNQKYPLASKSANTKQ
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
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice.
Kennan A.; Aherne A.; Palfi A.; Humphries M.; McKee A.; Stitt A.; Simpson D.A.; Demtroder K.; Orntoft T.; Ayuso C.; Kenna P.F.; Farrar G.J.; Humphries P.;
Hum. Mol. Genet. 11:547-557(2002)
Cited for: VARIANT RP10 PRO-224;
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