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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07949: Variant p.Glu921Lys

Proto-oncogene tyrosine-protein kinase receptor Ret
Gene: RET
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Variant information Variant position: help 921
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Lysine (K) at position 921 (E921K, p.Glu921Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In HSCR1; sporadic form.
Other resources: help


Sequence information Variant position: help 921
Protein sequence length: help 1114
Location on the sequence: help EEDSYVKRSQGRIPVKWMAI E SLFDHIYTTQSDVWSFGVLL
Residue conservation: help 
Human                         EEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLL

Mouse                         EEDSYVKKSKGRIPVKWMAIESLFDHIYTTQSDVWSFGVLL

Rat                           EEDSYVKKSKGRIPVKWMAIESLFDHIYTTQSDVWSFGVLL
Sequence annotation in neighborhood: help
TypePositionsDescription
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
Modified residue 905 – 905 Phosphotyrosine; by autocatalysis
Mutagenesis 708 – 1114 Missing. Loss of induced cell death, but increased cell aggregation.
Mutagenesis 912 – 912 R -> A. Enhanced protein autophosphorylation due to enhanced substrate presentation in trans.
Mutagenesis 913 – 913 I -> A. Enhanced protein autophosphorylation due to enhanced substrate presentation in trans.
Helix 920 – 925



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.