Variant position: 699 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 FQKIVDESKNYQDKKSWVEY LSLETTRKEIVMAMMMTACDL
Mouse FQKIVDESKNYEDKKSWVEY LSLETTRKEIVMAMMMTACDL
Bovine FQKIVDESKNYEDRKSWVEY LSLETTRKEIVMAMMMTACDL
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
718 – 718 Divalent metal cation 1
A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family.
Valverde D.; Solans T.; Grinberg D.; Balcells S.; Vilageliu L.; Bayes M.; Chivelet P.; Besmond C.; Goossens M.; Gonzalez-Duarte R.; Baiget M.;
Hum. Genet. 97:35-38(1996)
Cited for: VARIANT RP40 ARG-699;
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