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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07949: Variant p.Thr946Met

Proto-oncogene tyrosine-protein kinase receptor Ret
Gene: RET
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Variant information Variant position: help 946
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Methionine (M) at position 946 (T946M, p.Thr946Met).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (M)
BLOSUM score: help -1
Variant description: help In MEN2B and MTC; familial form.


Sequence information Variant position: help 946
Protein sequence length: help 1114
Location on the sequence: help HIYTTQSDVWSFGVLLWEIV T LGGNPYPGIPPERLFNLLKT
Residue conservation: help 
Human                         HIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFNLLKT

Mouse                         HIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFNLLKT

Rat                           HIYTTQSDVWSFGVLLWEIVTLGGNPYPGIPPERLFNLLKT
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
Mutagenesis 708 – 1114 Missing. Loss of induced cell death, but increased cell aggregation.



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.