Sequence information
Variant position: 891 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1114 The length of the canonical sequence.
Location on the sequence:
VHRDLAARNILVAEGRKMKI
S DFGLSRDVYEEDSYVKRSQG
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 VHRDLAARNILVAEGRKMKIS DFGLSRDVYEEDSYVKRSQG
Mouse VHRDLAARNILVAEGRKMKIS DFGLSRDVYEEDSYVKKSKG
Rat VHRDLAARNILVAEGRKMKIS DFGLSRDVYEEDSYVKKSKG
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
29 – 1114
Proto-oncogene tyrosine-protein kinase receptor Ret
Chain
708 – 1017
Soluble RET kinase fragment
Topological domain
658 – 1114
Cytoplasmic
Domain
724 – 1016
Protein kinase
Active site
874 – 874
Proton acceptor
Binding site
892 – 892
Inhibitor
Modified residue
900 – 900
Phosphotyrosine; by autocatalysis
Modified residue
905 – 905
Phosphotyrosine; by autocatalysis
Mutagenesis
708 – 1114
Missing. Loss of induced cell death, but increased cell aggregation.
Literature citations
A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
Hofstra R.M.W.; Fattoruso O.; Quadro L.; Wu Y.; Libroia A.; Verga U.; Colantuoni V.; Buys C.H.C.M.;
J. Clin. Endocrinol. Metab. 82:4176-4178(1997)
Cited for: VARIANT MTC ALA-891;
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.