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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P30518: Variant p.Asn321Lys

Vasopressin V2 receptor
Gene: AVPR2
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Variant information Variant position: help 321
Type of variant: help LP/P [Disclaimer]
Residue change: help From Asparagine (N) to Lysine (K) at position 321 (N321K, p.Asn321Lys).
Physico-chemical properties: help Change from medium size and polar (N) to large size and basic (K)
BLOSUM score: help 0
Variant description: help In NDI1.
Other resources: help


Sequence information Variant position: help 321
Protein sequence length: help 371
Location on the sequence: help PLEGAPFVLLMLLASLNSCT N PWIYASFSSSVSSELRSLLC
Residue conservation: help 
Human                         PLEGAPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLC

                              PLEGAPFVLLMLLASLNSCTNPWIYAFFSSSVSSELRSLFC

Mouse                         PLERPPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLC

Rat                           PLERPPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLC

Pig                           PREGPPFVLLMLLASLNSCTNPWIYASFSSSISSELRSLLC

Bovine                        PREGPPFVLLMLLASLNSCTNPWIYASFSSSISSELRSLLC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 371 Vasopressin V2 receptor
Transmembrane 309 – 328 Helical; Name=7
Lipidation 341 – 341 S-palmitoyl cysteine
Alternative sequence 310 – 371 Missing. In isoform 2.
Mutagenesis 341 – 341 C -> S. Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected.
Helix 316 – 328



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.