Variant position: 1562 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1950 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 RGHYEFPVVDDLSSGDTKER HRVYRRAQMQIDKILDPTASV
Mouse RGHYEFPVVDDLSSGDTKER HRVYRRAQMQIDKILDPAASV
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 – 1950 UPF0606 protein KIAA1549
1554 – 1554 Phosphoserine
1555 – 1555 Phosphoserine
Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.
de Bruijn S.E.; Verbakel S.K.; de Vrieze E.; Kremer H.; Cremers F.P.M.; Hoyng C.B.; van den Born L.I.; Roosing S.;
J. Med. Genet. 55:705-712(2018)
Cited for: INVOLVEMENT IN RP86; FUNCTION; ALTERNATIVE SPLICING; TISSUE SPECIFICITY; VARIANT RP86 GLN-1562;
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