UniProtKB/SwissProt variant VAR

E3 ubiquitin-protein ligase makorin-3
Gene: MKRN3
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Variant information Variant position:

365
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Serine (S) at position 365 (R365S, p.Arg365Ser).
Physico-chemical properties:

Change from large size and basic (R) to small size and polar (S)
BLOSUM score:

-1
Variant description:

In CPPB2.
Other resources:

Variant rs879255240 [ dbSNP | Ensembl ]

Sequence information Variant position:

365
Protein sequence length:

507
Location on the sequence:

RRWRSARQFENRIVKSCPQC R VTSELVIPSEFWVEEEEEKQ
Residue conservation:

Human                         RRWRSARQFENRIVKSCPQCRVTSELVIPSEFWVEEEEEKQ

Mouse                         RRWRSATQFENRISKSCPQCRVSSGFVIPSEFWVEEEEEKE

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 507	E3 ubiquitin-protein ligase makorin-3
Zinc finger	311 – 365	RING-type

Literature citations
Central precocious puberty caused by mutations in the imprinted gene MKRN3.
Abreu A.P.; Dauber A.; Macedo D.B.; Noel S.D.; Brito V.N.; Gill J.C.; Cukier P.; Thompson I.R.; Navarro V.M.; Gagliardi P.C.; Rodrigues T.; Kochi C.; Longui C.A.; Beckers D.; de Zegher F.; Montenegro L.R.; Mendonca B.B.; Carroll R.S.; Hirschhorn J.N.; Latronico A.C.; Kaiser U.B.;
N. Engl. J. Med. 368:2467-2475(2013)
Cited for: VARIANT CPPB2 SER-365;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13064: Variant p.Arg365Ser