Variant position: 1263 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1816 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 LGQSMSKYDLLVWFEISELE PTGEYIPAVVDHTAGLPCQGT
Mouse LGQSMSKYDLLVWFEISELE PTGEYIPAVVDHTAGLPCQGT
Rat LGQSMSKYDLLVWFEISELE PTGEYIPAVVDHTAGLPCQGT
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
2 – 1816 Kinesin-like protein KIF1B
1197 – 1816 Missing. In isoform 3.
The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor.
Schlisio S.; Kenchappa R.S.; Vredeveld L.C.; George R.E.; Stewart R.; Greulich H.; Shahriari K.; Nguyen N.V.; Pigny P.; Dahia P.L.; Pomeroy S.L.; Maris J.M.; Look A.T.; Meyerson M.; Peeper D.S.; Carter B.D.; Kaelin W.G. Jr.;
Genes Dev. 22:884-893(2008)
Cited for: FUNCTION; INVOLVEMENT IN NEUROBLASTOMA AND PHEOCHROMOCYTOMA; VARIANTS LEU-34; VAL-692; ILE-873; CYS-1133; SER-1263; ASN-1527; MET-1600 AND LYS-1674;
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.