Sequence information
Variant position: 489 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 542 The length of the canonical sequence.
Location on the sequence:
NDDSGSYTLNFQGRVTQASV
K NFQIVHADDPDYIVLQFGRV
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 NDDSGSYTLNFQGRVTQASVK NFQIVHADDPDYIVLQFGRV
Mouse NEDSGSYTLNFQGRVTQASVK NFQIVHADDPDYIVLQFGRV
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
Chain
1 – 542
Tubby-related protein 1
Literature citations
Identification of tubby and tubby-like protein 1 as eat-me signals by phage display.
Caberoy N.B.; Maiguel D.; Kim Y.; Li W.;
Exp. Cell Res. 316:245-257(2010)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS RP14 PRO-420; LYS-459; ARG-489 AND LEU-491;
Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa.
Gu S.; Lennon A.; Li Y.; Lorenz B.; Fossarello M.; North M.; Gal A.; Wright A.;
Lancet 351:1103-1104(1998)
Cited for: VARIANTS RP14 120-GLU--ASP-127 DEL; ARG-489 AND THR-496;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.