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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N371: Variant p.Glu302Asp

Bifunctional peptidase and arginyl-hydroxylase JMJD5
Gene: KDM8
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Variant information Variant position: help 302
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Aspartate (D) at position 302 (E302D, p.Glu302Asp).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and acidic.
BLOSUM score: help 2
Other resources: help


Sequence information Variant position: help 302
Protein sequence length: help 416
Location on the sequence: help IPELKQDISIPDYCSLGDGE E EEITINAWFGPQGTISPLHQ
Residue conservation: help 
Human                         IPELKQDISIPDYCSLGDGEEEEITINAWFGPQGTISPLHQ

Mouse                         IPELKRDISIPDYCCLGNGEEEEITINAWFGPQGTISPLHQ

Rat                           IPELKQDISIPDYCCLGNGEEEEITINAWFGPQGTISPLHQ

Bovine                        IPELKQDISIPDYCCLGDGEEEEITINAWFGPQGTVSPLHQ

Xenopus tropicalis            IPELKEDICIPDYCCLGEASEDEITINAWFGPAGTVSPLHQ

Zebrafish                     VPELKEDIRIPDYCCLGEGDEDDITINAWFGPGGTVSPLHQ
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 416 Bifunctional peptidase and arginyl-hydroxylase JMJD5
Domain 271 – 416 JmjC
Binding site 318 – 318
Binding site 318 – 318
Binding site 318 – 318
Binding site 321 – 321
Binding site 321 – 321
Alternative sequence 167 – 362 Missing. In isoform 2.
Mutagenesis 310 – 310 W -> A. Loss of L-arginyl 3-hydroxylase activity toward RPS6.
Mutagenesis 321 – 321 H -> A. Loss of H3K36me2 demethylase activity.
Mutagenesis 321 – 321 H -> A. Loss of L-arginyl 3-hydroxylase activity toward RPS6. Loss of peptidase activity toward methylated histones; when associated with A-323 and A-400. No effect on its regulatory function on the circadian clock or CRY1 stability.
Helix 302 – 304



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.