UniProtKB/SwissProt variant VAR

G protein-activated inward rectifier potassium channel 4
Gene: KCNJ5
Feedback?

Variant information Variant position:

151
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 151 (G151R, p.Gly151Arg).
Physico-chemical properties:

Change from glycine (G) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In HALD3; detected as germline mutation in a kindred with severe primary aldosteronism and adrenocortical hyperplasia; also found as somatic mutation in aldosterone-producing adrenal adenoma samples; results in loss of channel selectivity and membrane depolarization.
Other resources:

Variant rs386352319 [ dbSNP | Ensembl ]

Sequence information Variant position:

151
Protein sequence length:

419
Location on the sequence:

ENLSGFVSAFLFSIETETTI G YGFRVITEKCPEGIILLLVQ
Residue conservation:

Human                         ENLSGFVSAFLFSIETETTIGYGFRVITEKCPEGIILLLVQ

Mouse                         ENLSGFVSAFLFSIETETTIGYGFRVITEKCPEGIILLLVQ

Rat                           ENLSGFVSAFLFSIETETTIGYGFRVITEKCPEGIILLLVQ

Pig                           ENLSGFVSAFLFSIETETTIGYGFRVITEKCPEGIVLLLVQ

Bovine                        ENLSGFVSAFLFSIETETTIGYGFRVITEKCPEGIVLLLVQ

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 419	G protein-activated inward rectifier potassium channel 4
Intramembrane	148 – 154	Pore-forming
Motif	149 – 154	Selectivity filter

Literature citations
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension.
Choi M.; Scholl U.I.; Yue P.; Bjorklund P.; Zhao B.; Nelson-Williams C.; Ji W.; Cho Y.; Patel A.; Men C.J.; Lolis E.; Wisgerhof M.V.; Geller D.S.; Mane S.; Hellman P.; Westin G.; Akerstrom G.; Wang W.; Carling T.; Lifton R.P.;
Science 331:768-772(2011)
Cited for: TISSUE SPECIFICITY; VARIANTS HALD3 ARG-151 AND ALA-158; VARIANTS HIS-39; ARG-168 AND ILE-210; CHARACTERIZATION OF VARIANT HALD3 ARG-151; CHARACTERIZATION OF VARIANT ARG-168; INVOLVEMENT IN ALDOSTERONISM ASSOCIATED WITH ADRENAL ADENOMAS; KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.
Mulatero P.; Tauber P.; Zennaro M.C.; Monticone S.; Lang K.; Beuschlein F.; Fischer E.; Tizzani D.; Pallauf A.; Viola A.; Amar L.; Williams T.A.; Strom T.M.; Graf E.; Bandulik S.; Penton D.; Plouin P.F.; Warth R.; Allolio B.; Jeunemaitre X.; Veglio F.; Reincke M.;
Hypertension 59:235-240(2012)
Cited for: VARIANT ARG-168; VARIANTS HALD3 ARG-151; GLU-151 AND ALA-158; CHARACTERIZATION OF VARIANT HALD3 GLU-151; INVOLVEMENT IN ALDOSTERONISM ASSOCIATED WITH ADRENAL ADENOMAS; Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism.
Boulkroun S.; Beuschlein F.; Rossi G.P.; Golib-Dzib J.F.; Fischer E.; Amar L.; Mulatero P.; Samson-Couterie B.; Hahner S.; Quinkler M.; Fallo F.; Letizia C.; Allolio B.; Ceolotto G.; Cicala M.V.; Lang K.; Lefebvre H.; Lenzini L.; Maniero C.; Monticone S.; Perrocheau M.; Pilon C.; Plouin P.F.; Rayes N.; Seccia T.M.; Veglio F.; Williams T.A.; Zinnamosca L.; Mantero F.; Benecke A.; Jeunemaitre X.; Reincke M.; Zennaro M.C.;
Hypertension 59:592-598(2012)
Cited for: VARIANT HALD3 ARG-151; VARIANT ARG-168; INVOLVEMENT IN ALDOSTERONISM ASSOCIATED WITH ADRENAL ADENOMAS; A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.
Charmandari E.; Sertedaki A.; Kino T.; Merakou C.; Hoffman D.A.; Hatch M.M.; Hurt D.E.; Lin L.; Xekouki P.; Stratakis C.A.; Chrousos G.P.;
J. Clin. Endocrinol. Metab. 97:E1532-E1539(2012)
Cited for: VARIANT HALD3 SER-157; CHARACTERIZATION OF VARIANTS HALD3 ARG-151; SER-157 AND ALA-158; CHARACTERIZATION OF VARIANT ARG-168; FUNCTION; TRANSPORTER ACTIVITY; Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter.
Akerstrom T.; Crona J.; Delgado Verdugo A.; Starker L.F.; Cupisti K.; Willenberg H.S.; Knoefel W.T.; Saeger W.; Feller A.; Ip J.; Soon P.; Anlauf M.; Alesina P.F.; Schmid K.W.; Decaussin M.; Levillain P.; Wangberg B.; Peix J.L.; Robinson B.; Zedenius J.; Backdahl M.; Caramuta S.; Iwen K.A.; Botling J.; Stalberg P.; Kraimps J.L.; Dralle H.; Hellman P.; Sidhu S.; Westin G.; Lehnert H.; Walz M.K.; Akerstrom G.; Carling T.; Choi M.; Lifton R.P.; Bjorklund P.;
PLoS ONE 7:E41926-E41926(2012)
Cited for: VARIANT HALD3 ARG-151; VARIANTS GLN-145 AND ARG-168; INVOLVEMENT IN ALDOSTERONISM ASSOCIATED WITH ADRENAL ADENOMAS; Hypertension with or without adrenal hyperplasia due to different inherited mutations in the potassium channel KCNJ5.
Scholl U.I.; Nelson-Williams C.; Yue P.; Grekin R.; Wyatt R.J.; Dillon M.J.; Couch R.; Hammer L.K.; Harley F.L.; Farhi A.; Wang W.H.; Lifton R.P.;
Proc. Natl. Acad. Sci. U.S.A. 109:2533-2538(2012)
Cited for: VARIANTS HALD3 ARG-151 AND GLU-151;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48544: Variant p.Gly151Arg