Variant position: 533 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1020 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 KSLKLSPVQKQKKQQTIGEL TQDTALTENDDSDEY--EEMSE-M
Mouse KLLDFSPIQKQQNQDTFEKV MESTPCTENEDSYEY--EEMS
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 – 1017 X-linked retinitis pigmentosa GTPase regulator
530 – 903 Glu-rich
518 – 518 Phosphoserine
481 – 1020 Missing. In isoform 5.
Sequence variation within the RPGR gene: evidence for a founder complex allele.
Zito I.; Morris A.; Tyson P.; Winship I.; Sharp D.; Gilbert D.; Thiselton D.L.; Bhattacharya S.S.; Hardcastle A.J.;
Hum. Mutat. 16:273-274(2000)
Cited for: VARIANTS LYS-425; GLN-526 DEL; MET-533 AND GLU-566;
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