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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07949: Variant p.Pro64Leu

Proto-oncogene tyrosine-protein kinase receptor Ret
Gene: RET
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Variant information Variant position: help 64
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Leucine (L) at position 64 (P64L, p.Pro64Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In HSCR1; familial form.
Other resources: help


Sequence information Variant position: help 64
Protein sequence length: help 1114
Location on the sequence: help QAAGTPLLYVHALRDAPEEV P SFRLGQHLYGTYRTRLHENN
Residue conservation: help
Human                         QAAGTPLLYVHALRDAPEEVPSFRLGQHLYGTYRTRLHENN

Mouse                         QPAGTPLLYVHALRDAPGEVPSFRLGQHLYGVYRTRLHEND

Rat                           QPAGTPLLYVHALRDAPGEVPSFRLGQYLYGVYRTRLHEND

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 29 – 1114 Proto-oncogene tyrosine-protein kinase receptor Ret
Chain 29 – 707 Extracellular cell-membrane anchored RET cadherin 120 kDa fragment
Topological domain 29 – 635 Extracellular
Region 29 – 153 Cadherin-like region 1 (CLD1)



Literature citations
Mutations of the RET proto-oncogene in Hirschsprung's disease.
Edery P.; Lyonnet S.; Mulligan L.M.; Pelet A.; Dow E.; Abel L.; Holder S.; Nihoul-Fkete C.; Ponder B.A.J.; Munnich A.;
Nature 367:378-380(1994)
Cited for: VARIANTS HSCR1 LEU-32; LEU-64; GLN-330 AND LEU-393;
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.