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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30518: Variant p.Leu289Pro

Vasopressin V2 receptor
Gene: AVPR2
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Variant information Variant position: help 289
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 289 (L289P, p.Leu289Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In NDI1.


Sequence information Variant position: help 289
Protein sequence length: help 371
Location on the sequence: help TVRMTLVIVVVYVLCWAPFF L VQLWAAWDPEAPLEGAPFVL
Residue conservation: help 
Human                         TVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGAPFVL

                              TVRMTLVIVIVYVLCWAPFFLVQLWAAWDPQAPLEGAPFVL

Mouse                         TVRMTLVIVIVYVLCWAPFFLVQLWAAWDPEAPLERPPFVL

Rat                           TVRMTLVIVIVYVLCWAPFFLVQLWAAWDPEAPLERPPFVL

Pig                           TARMTLVIVAVYVLCWAPFFLVQLWSVWDPKAPREGPPFVL

Bovine                        TVKMTLVIVIVYVLCWAPFFLVQLWAAWDPEAPREGPPFVL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 371 Vasopressin V2 receptor
Transmembrane 272 – 293 Helical; Name=6
Helix 264 – 296



Literature citations
Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.
Arthus M.F.; Lonergan M.; Crumley M.J.; Naumova A.K.; Morin D.; De Marco L.A.; Kaplan B.S.; Robertson G.L.; Sasaki S.; Morgan K.; Bichet D.G.; Fujiwara T.M.;
J. Am. Soc. Nephrol. 11:1044-1054(2000)
Cited for: VARIANTS NDI1 GLN-94; LYS-123; PRO-135; LEU-174; GLY-191; SER-214; THR-217; SER-286; PRO-289; ARG-315; ASP-321 AND LYS-321;
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.