Sequence information
Variant position: 235 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1226 The length of the canonical sequence.
Location on the sequence:
NFPPSLASKPSLVQQKPTAY
V RPMDGQDQAPDESPKLKSSS
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human NFPPSLASKPSLVQQKPTAYV RPMDGQDQAPDESPKLKSSS
Mouse NFPPSLASKPSLVQQKPTAYV RPMDGQDQAPDESPKLKSST
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 1226
AF4/FMR2 family member 3
Region
197 – 299
Disordered
Literature citations
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N.; Schnur R.E.; Douzgou S.; Hiatt S.M.; Rustad C.F.; Brown N.J.; Earl D.L.; Keren B.; Levchenko O.; Geuer S.; Verheyen S.; Johnson D.; Zarate Y.A.; Hancarova M.; Amor D.J.; Bebin E.M.; Blatterer J.; Brusco A.; Cappuccio G.; Charrow J.; Chatron N.; Cooper G.M.; Courtin T.; Dadali E.; Delafontaine J.; Del Giudice E.; Doco M.; Douglas G.; Eisenkoelbl A.; Funari T.; Giannuzzi G.; Gruber-Sedlmayr U.; Guex N.; Heron D.; Holla O.L.; Hurst A.C.E.; Juusola J.; Kronn D.; Lavrov A.; Lee C.; Lorrain S.; Merckoll E.; Mikhaleva A.; Norman J.; Pradervand S.; Prchalova D.; Rhodes L.; Sanders V.R.; Sedlacek Z.; Seebacher H.A.; Sellars E.A.; Sirchia F.; Takenouchi T.; Tanaka A.J.; Taska-Tench H.; Toenne E.; Tveten K.; Vitiello G.; Vlckova M.; Uehara T.; Nava C.; Yalcin B.; Kosaki K.; Donnai D.; Mundlos S.; Brunetti-Pierri N.; Chung W.K.; Reymond A.;
Am. J. Hum. Genet. 108:857-873(2021)
Cited for: VARIANTS KINS ALA-231; LEU-231; SER-233; THR-233; VAL-233 AND GLY-235; INVOLVEMENT IN KINS;
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.