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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BYZ6: Variant p.Arg461His

Rho-related BTB domain-containing protein 2
Gene: RHOBTB2
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Variant information Variant position: help 461
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Histidine (H) at position 461 (R461H, p.Arg461His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Variant description: help In DEE64; reduced RHOBTB2 proteasomal degradation; does not affect interaction with CUL3.
Other resources: help


Sequence information Variant position: help 461
Protein sequence length: help 727
Location on the sequence: help NERDLMHIAHIAELLEVFDL R MMVANILNNEAFMNQEITKA
Residue conservation: help
Human                         NERDLMHIAHIAELLEVFDLRMMVANILNNEAFMNQEITKA

Mouse                         NERDLMHIAHIAELLEVFDLRMMVANILNNEAFMNQEITKA

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 727 Rho-related BTB domain-containing protein 2



Literature citations
Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila.
Straub J.; Konrad E.D.H.; Gruener J.; Toutain A.; Bok L.A.; Cho M.T.; Crawford H.P.; Dubbs H.; Douglas G.; Jobling R.; Johnson D.; Krock B.; Mikati M.A.; Nesbitt A.; Nicolai J.; Phillips M.; Poduri A.; Ortiz-Gonzalez X.R.; Powis Z.; Santani A.; Smith L.; Stegmann A.P.A.; Stumpel C.; Vreeburg M.; Fliedner A.; Gregor A.; Sticht H.; Zweier C.;
Am. J. Hum. Genet. 102:44-57(2018)
Cited for: VARIANTS DEE64 GLY-452; HIS-461; ASP-488; GLN-489 AND TRP-489; CHARACTERIZATION OF VARIANTS DEE64 GLY-452; HIS-461 AND GLN-489; INVOLVEMENT IN DEE64; INTERACTION WITH CUL3; De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Belal H.; Nakashima M.; Matsumoto H.; Yokochi K.; Taniguchi-Ikeda M.; Aoto K.; Amin M.B.; Maruyama A.; Nagase H.; Mizuguchi T.; Miyatake S.; Miyake N.; Iijima K.; Nonoyama S.; Matsumoto N.; Saitsu H.;
Hum. Mutat. 39:1070-1075(2018)
Cited for: VARIANTS DEE64 HIS-461; CYS-485 AND GLN-489; CHARACTERIZATION OF VARIANTS DEE64 HIS-461; CYS-485 AND GLN-489; MUTAGENESIS OF TYR-284; INVOLVEMENT IN DEE64;
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.