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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30518: Variant p.Ile46Lys

Vasopressin V2 receptor
Gene: AVPR2
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Variant information Variant position: help 46
Type of variant: help LP/P [Disclaimer]
Residue change: help From Isoleucine (I) to Lysine (K) at position 46 (I46K, p.Ile46Lys).
Physico-chemical properties: help Change from medium size and hydrophobic (I) to large size and basic (K)
BLOSUM score: help -3
Variant description: help In NDI1.
Other resources: help


Sequence information Variant position: help 46
Protein sequence length: help 371
Location on the sequence: help ERPLDTRDPLLARAELALLS I VFVAVALSNGLVLAALARRG
Residue conservation: help 
Human                         ERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRG

                              -ELLDTRDPLLVQAELALLSTVFVAVALSNGLVLGALARRV

Mouse                         EELLDDRDPLLVRAELALLSTIFVAVALSNGLVLGALIRRG

Rat                           EELLDDRDPLLVRAELALLSTIFVAVALSNGLVLGALIRRG

Pig                           REPLDDRDPLLARVELALLSTVFVAVALSNGLVLGALVRRG

Bovine                        GELLTARDPLLAQAELALLSTVFVAVALSNGLVLGALVRRG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 371 Vasopressin V2 receptor
Transmembrane 39 – 63 Helical; Name=1
Helix 34 – 66



Literature citations
Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
Pasel K.; Schulz A.; Timmermann K.; Linnemann K.; Hoeltzenbein M.; Jaaskelainen J.; Gruters A.; Filler G.; Schoneberg T.;
J. Clin. Endocrinol. Metab. 85:1703-1710(2000)
Cited for: VARIANTS NDI1 LYS-46; VAL-105 AND PHE-130;
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.