Variant position: 502 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2136 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 NRIQSKLYRAALETDENLLL CAPTGAGKTNVALMCMLREIG
Mouse NRIQSKLYRAALETDENLLL CAPTGAGKTNVALMCMLREIG
Rat NRIQSKLYRAALETDENLLL CAPTGAGKTNVALMCMLREIG
Caenorhabditis elegans NRIQSRLCDSALRSKEHLLL CAPTGAGKTNVALLTMLQEIG
Drosophila NRIQSRLYKAALDSDENMLL CAPTGAGKTNVALLTMMREIG
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 – 2136 U5 small nuclear ribonucleoprotein 200 kDa helicase
490 – 673 Helicase ATP-binding 1
499 – 502
Contribution of SNRNP200 sequence variations to retinitis pigmentosa.
Zhang X.; Lai T.Y.; Chiang S.W.; Tam P.O.; Liu D.T.; Chan C.K.; Pang C.P.; Zhao C.; Chen L.J.;
Cited for: VARIANTS RP33 ARG-502; VAL-698 AND HIS-1779; VARIANT THR-1995;
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