Sequence information
Variant position: 491 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:
DSGSYTLNFQGRVTQASVKN
F QIVHADDPDYIVLQFGRVAE
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 DSGSYTLNFQGRVTQASVKNF QIVHADDPDYIVLQFGRVAE
Mouse DSGSYTLNFQGRVTQASVKNF QIVHADDPDYIVLQFGRVAE
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
Beta strand
491 – 495
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;
Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.
Hagstrom S.A.; North M.A.; Nishina P.M.; Berson E.L.; Dryja T.P.;
Nat. Genet. 18:174-176(1998)
Cited for: VARIANTS RP14 PRO-420; LYS-459 AND LEU-491;
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.