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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21333: Variant p.Asp1184Glu

Filamin-A
Gene: FLNA
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Variant information Variant position: help 1184
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Glutamate (E) at position 1184 (D1184E, p.Asp1184Glu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and acidic.
BLOSUM score: help 2
Variant description: help In MNS.
Other resources: help


Sequence information Variant position: help 1184
Protein sequence length: help 2647
Location on the sequence: help KCSGPGLERATAGEVGQFQV D CSSAGSAELTIEICSEAGLP
Residue conservation: help 
Human                         KCSGPGLERATAGEVGQFQVDCSSAGSAELTIEICSEAGLP

Mouse                         KCSGPGLERATAGEVGQFQVDCSSAGSAELTIEICSEAGLP

Drosophila                    -----------------------------------------
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 2647 Filamin-A
Repeat 1155 – 1249 Filamin 10
Beta strand 1179 – 1184



Literature citations
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson S.P.; Twigg S.R.F.; Sutherland-Smith A.J.; Biancalana V.; Gorlin R.J.; Horn D.; Kenwrick S.J.; Kim C.A.; Morava E.; Newbury-Ecob R.; Oerstavik K.H.; Quarrell O.W.J.; Schwartz C.E.; Shears D.J.; Suri M.; Kendrick-Jones J.; Wilkie A.O.M.;
Nat. Genet. 33:487-491(2003)
Cited for: VARIANTS OPD1 PHE-172; TRP-196 AND LEU-207; VARIANTS OPD2 PRO-170; GLY-196; SER-200; LYS-254; PRO-273; LYS-555 AND PHE-1645; VARIANTS FMD1 ALA-1159; LEU-1186 AND ILE-1620 DEL; VARIANTS MNS GLU-1184; THR-1188 AND LEU-1199; VARIANTS MET-429 AND THR-1764;
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.