Sequence information
Variant position: 354 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 480 The length of the canonical sequence.
Location on the sequence:
KPKRRLSAARRAGTCCANCQ
T TTTTLWRRNANGDPVCNACG
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KPKRRLSAARRAGTCCANCQT TTTTLWRRNANGDPVCNACG
Mouse KPKRRLSAARRAGTCCANCQT TTTTLWRRNANGDPVCNACG
Rat KPKRRLSAARRAGTCCANCQT TTTTLWRRNANGDPVCNACG
Chicken KPKRRLSAARRAGTCCANCQT TTTTLWRRNANGDPVCNACG
Xenopus laevis KPKRRLSAARRAGTCCANCQT STTTLWRRNANGDPVCNACG
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 480
Endothelial transcription factor GATA-2
Zinc finger
349 – 373
GATA-type 2
Literature citations
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.
Hsu A.P.; Sampaio E.P.; Khan J.; Calvo K.R.; Lemieux J.E.; Patel S.Y.; Frucht D.M.; Vinh D.C.; Auth R.D.; Freeman A.F.; Olivier K.N.; Uzel G.; Zerbe C.S.; Spalding C.; Pittaluga S.; Raffeld M.; Kuhns D.B.; Ding L.; Paulson M.L.; Marciano B.E.; Gea-Banacloche J.C.; Orange J.S.; Cuellar-Rodriguez J.; Hickstein D.D.; Holland S.M.;
Blood 118:2653-2655(2011)
Cited for: VARIANTS IMD21 LEU-254; MET-354 AND TRP-398;
Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.
Hahn C.N.; Chong C.E.; Carmichael C.L.; Wilkins E.J.; Brautigan P.J.; Li X.C.; Babic M.; Lin M.; Carmagnac A.; Lee Y.K.; Kok C.H.; Gagliardi L.; Friend K.L.; Ekert P.G.; Butcher C.M.; Brown A.L.; Lewis I.D.; To L.B.; Timms A.E.; Storek J.; Moore S.; Altree M.; Escher R.; Bardy P.G.; Suthers G.K.; D'Andrea R.J.; Horwitz M.S.; Scott H.S.;
Nat. Genet. 43:1012-1017(2011)
Cited for: VARIANTS MDS MET-354 AND THR-355 DEL;
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.