Variant position: 312 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 IRDQTISYISCGENHTALIT DIGLMYTFGDGRHGKLGLGLE
Mouse IKDQKICHISCGENHTALMT ELGLLYTFGDGRHGKLGLGME
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
262 – 313 RCC1 5
323 – 323 R -> E. Abolishes interaction with RPGRIP1.
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
Sharon D.; Sandberg M.A.; Rabe V.W.; Stillberger M.; Dryja T.P.; Berson E.L.;
Am. J. Hum. Genet. 73:1131-1146(2003)
Cited for: VARIANTS RP3 ASN-312; TYR-312 AND ARG-320;
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