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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30518: Variant p.Phe287Leu

Vasopressin V2 receptor
Gene: AVPR2
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Variant information Variant position: help 287
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Leucine (L) at position 287 (F287L, p.Phe287Leu).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (L)
BLOSUM score: help 0
Variant description: help In NDI1.


Sequence information Variant position: help 287
Protein sequence length: help 371
Location on the sequence: help AKTVRMTLVIVVVYVLCWAP F FLVQLWAAWDPEAPLEGAPF
Residue conservation: help 
Human                         AKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEAPLEGAPF

                              AKTVRMTLVIVIVYVLCWAPFFLVQLWAAWDPQAPLEGAPF

Mouse                         AKTVRMTLVIVIVYVLCWAPFFLVQLWAAWDPEAPLERPPF

Rat                           AKTVRMTLVIVIVYVLCWAPFFLVQLWAAWDPEAPLERPPF

Pig                           AKTARMTLVIVAVYVLCWAPFFLVQLWSVWDPKAPREGPPF

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



Literature citations
Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
Chen C.H.; Chen W.Y.; Liu H.L.; Liu T.T.; Tsou A.P.; Lin C.Y.; Chao T.; Qi Y.; Hsiao K.J.;
J. Hum. Genet. 47:66-73(2002)
Cited for: VARIANTS NDI1 CYS-106 AND LEU-287;
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.