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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92908: Variant p.Lys473Gln

Transcription factor GATA-6
Gene: GATA6
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Variant information Variant position: help 473
Type of variant: help LP/P [Disclaimer]
Residue change: help From Lysine (K) to Glutamine (Q) at position 473 (K473Q, p.Lys473Gln).
Physico-chemical properties: help Change from large size and basic (K) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In PACHD; loss of transcriptional activity.


Sequence information Variant position: help 473
Protein sequence length: help 595
Location on the sequence: help TLWRRNAEGEPVCNACGLYM K LHGVPRPLAMKKEGIQTRKR
Residue conservation: help 
Human                         TLWRRNAEGEPVCNACGLYMKLHGVPRPLAMKKEGIQTRKR

Mouse                         TLWRRNAEGEPVCNACGLYMKLHGVPRPLAMKKEGIQTRKR

Rat                           TLWRRNAEGEPVCNACGLYMKLHGVPRPLAMKKEGIQTRKR

Chicken                       TLWRRNAEGEPVCNACGLYMKLHGVPRPLAMKKEGIQTRKR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 595 Transcription factor GATA-6
Cross 473 – 473 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Cross 484 – 484 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)



Literature citations
GATA6 haploinsufficiency causes pancreatic agenesis in humans.
Allen H.L.; Flanagan S.E.; Shaw-Smith C.; De Franco E.; Akerman I.; Caswell R.; Ferrer J.; Hattersley A.T.; Ellard S.;
Nat. Genet. 44:20-22(2012)
Cited for: VARIANTS PACHD ALA-452; CYS-456; HIS-456; ASP-466; THR-467 AND GLN-473; CHARACTERIZATION OF VARIANTS PACHD CYS-456; ASP-466; THR-467 AND GLN-473;
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.