Variant position: 193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 452 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 RPHSCSVCGKSFRDQSELKR HQKIHQNQEPVD-------------GNQECTLRI
Mouse RPRSCPECGKCFRDQSEVNR HLKVHQNKPAAS------NQA
Rat RPRSCPECGKCFRDQSEVNR HLKVHQNKKPVAGSHVKVHQN
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 – 452 Zinc finger protein 57 homolog
175 – 197 C2H2-type 4
185 – 185 Crucial for 5-methylcytosine recognition
Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.
Mackay D.J.G.; Callaway J.L.A.; Marks S.M.; White H.E.; Acerini C.L.; Boonen S.E.; Dayanikli P.; Firth H.V.; Goodship J.A.; Haemers A.P.; Hahnemann J.M.D.; Kordonouri O.; Masoud A.F.; Oestergaard E.; Storr J.; Ellard S.; Hattersley A.T.; Robinson D.O.; Temple I.K.;
Nat. Genet. 40:949-951(2008)
Cited for: VARIANTS TNDM1 HIS-166; ASN-193 AND ASP-374; FUNCTION;
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