Variant position: 552 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 854 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 KFQIPQEVLVRFLFSISKGY RRITYHNWRHGFNVAQTMFTL
Mouse KFQIPQEVLVRFLFSVSKAY RRITYHNWRHGFNVAQTMFTL
Bovine KFQIPQEVLVRFLFSVSKGY RRITYHNWRHGFNVAQTMFTL
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 – 851 Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
481 – 814 PDEase
557 – 557 Proton donor
561 – 561 Divalent metal cation 1
Identification of a novel R552Q mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.
Valverde D.; Baiget M.; Seminago R.; del Rio E.; Garcia-Sandoval B.; del Rio T.; Bayes M.; Balcells S.; Martinez A.; Grinberg D.; Ayuso C.;
Hum. Mutat. 8:393-394(1996)
Cited for: VARIANT RP40 GLN-552;
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