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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16676: Variant p.Ala88Gly

Forkhead box protein D1
Gene: FOXD1
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Variant information Variant position: help 88
Type of variant: help LB/B
Residue change: help From Alanine (A) to Glycine (G) at position 88 (A88G, p.Ala88Gly).
Physico-chemical properties: help Change from small size and hydrophobic (A) to glycine (G)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 88
Protein sequence length: help 465
Location on the sequence: help LEEEEDDDDILLAPPAGGSP A PPGPAPAAGAGAGGGGGGGG
Residue conservation: help 
Human                         LEEEED-----DDDILLAPP--------------------AGGSPAPPG---PAPAAGAGAG--GGGGGG-G

Mouse                         LEEEDD-----DDLLLASRP---------------------

Chicken                       EEEEEDAGDLHDDALLPRSPVRAGGGGGGGGGGGGAGGGDG

Xenopus laevis                --EEED-----GELLMPRSP--------------------H

Xenopus tropicalis            --EDEDL----HGDLLPTSP--------------------Q
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 465 Forkhead box protein D1
Region 1 – 117 Disordered



Literature citations
Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans.
Laissue P.; Lakhal B.; Vatin M.; Batista F.; Burgio G.; Mercier E.; Santos E.D.; Buffat C.; Sierra-Diaz D.C.; Renault G.; Montagutelli X.; Salmon J.; Monget P.; Veitia R.A.; Mehats C.; Fellous M.; Gris J.C.; Cocquet J.; Vaiman D.;
Open Biol. 6:0-0(2016)
Cited for: FUNCTION; VARIANTS PRO-55; GLY-88; LEU-228; THR-326; VAL-336; ARG-352; GLY-356; MET-364; 383-GLN--ALA-387 DEL; LEU-396; ILE-437 AND SER-442; CHARACTERIZATION OF VARIANTS GLY-356 AND MET-364;
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.