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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86XK2: Variant p.Arg138Ser

F-box only protein 11
Gene: FBXO11
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Variant information Variant position: help 138
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Serine (S) at position 138 (R138S, p.Arg138Ser).
Physico-chemical properties: help Change from large size and basic (R) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In IDDFBA.
Other resources: help


Sequence information Variant position: help 138
Protein sequence length: help 927
Location on the sequence: help SMEGASTSTTENFGHRAKRA R VSGKSQDLSAAPAEQYLQEK
Residue conservation: help 
Human                         SMEGASTSTTENFGHRAKRARVSGKSQDLSAAPAEQYLQEK

Mouse                         SMEGASTSTTENFGHRAKRARVSGKSQDLSAAPAEQYLQEK

Rat                           SMEGASTSTTENFGHRAKRARVSGKSQDLSAAPAEQYLQEK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 927 F-box only protein 11
Alternative sequence 1 – 209 Missing. In isoform 2.



Literature citations
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Gregor A.; Sadleir L.G.; Asadollahi R.; Azzarello-Burri S.; Battaglia A.; Ousager L.B.; Boonsawat P.; Bruel A.L.; Buchert R.; Calpena E.; Cogne B.; Dallapiccola B.; Distelmaier F.; Elmslie F.; Faivre L.; Haack T.B.; Harrison V.; Henderson A.; Hunt D.; Isidor B.; Joset P.; Kumada S.; Lachmeijer A.M.A.; Lees M.; Lynch S.A.; Martinez F.; Matsumoto N.; McDougall C.; Mefford H.C.; Miyake N.; Myers C.T.; Moutton S.; Nesbitt A.; Novelli A.; Orellana C.; Rauch A.; Rosello M.; Saida K.; Santani A.B.; Sarkar A.; Scheffer I.E.; Shinawi M.; Steindl K.; Symonds J.D.; Zackai E.H.; Reis A.; Sticht H.; Zweier C.;
Am. J. Hum. Genet. 103:305-316(2018)
Cited for: INVOLVEMENT IN IDDFBA; VARIANTS IDDFBA SER-138; ARG-156; VAL-538; 609-GLU--ASN-927 DEL; ARG-623; 697-GLY--ASN-927 DEL; PRO-840; ASP-892; 904-GLU--ASN-927 DEL; ARG-905 AND GLY-910;
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.