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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13064: Variant p.His420Gln

E3 ubiquitin-protein ligase makorin-3
Gene: MKRN3
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Variant information Variant position: help 420
Type of variant: help LP/P [Disclaimer]
Residue change: help From Histidine (H) to Glutamine (Q) at position 420 (H420Q, p.His420Gln).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and polar.
BLOSUM score: help 0
Variant description: help In CPPB2.
Other resources: help


Sequence information Variant position: help 420
Protein sequence length: help 507
Location on the sequence: help CRYFAEGRGNCPFGDTCFYK H EYPEGWGDEPPGPGGGSFSA
Residue conservation: help 
Human                         CRYFAEGRGNCPFGDTCFYKHEYPEGWGDEPPGP-GGGSFSA

Mouse                         CRYFAGGLGHCPFGEFCFYKHEYPEGWRDQPPRPDGGGSSS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 507 E3 ubiquitin-protein ligase makorin-3
Zinc finger 394 – 423 C3H1-type 3



Literature citations
A novel MKRN3 missense mutation causing familial precocious puberty.
de Vries L.; Gat-Yablonski G.; Dror N.; Singer A.; Phillip M.;
Hum. Reprod. 29:2838-2843(2014)
Cited for: VARIANT CPPB2 GLN-420;
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.