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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21333: Variant p.Pro207Leu

Filamin-A
Gene: FLNA
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Variant information Variant position: help 207
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Leucine (L) at position 207 (P207L, p.Pro207Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In OPD1.
Other resources: help


Sequence information Variant position: help 207
Protein sequence length: help 2647
Location on the sequence: help NFSRDWQSGRALGALVDSCA P GLCPDWDSWDASKPVTNARE
Residue conservation: help 
Human                         NFSRDWQSGRALGALVDSCAPGLCPDWDSWDASKPVTNARE

Mouse                         NFSRDWQSGRALGALVDSCAPGLCPDWDSWDASKPVNNARE

Drosophila                    NFTNDWTTGKAVGALVDACAPGLCPDWELWDPKDAVQNASE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 2647 Filamin-A
Domain 166 – 269 Calponin-homology (CH) 2
Region 2 – 274 Actin-binding



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; Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S.; Fergelot P.; Naudion S.; Cordier M.P.; Sole G.; Guerineau E.; Hubert C.; Rooryck C.; Vuillaume M.L.; Houcinat N.; Deforges J.; Bouron J.; Deves S.; Le Merrer M.; David A.; Genevieve D.; Giuliano F.; Journel H.; Megarbane A.; Faivre L.; Chassaing N.; Francannet C.; Sarrazin E.; Stattin E.L.; Vigneron J.; Leclair D.; Abadie C.; Sarda P.; Baumann C.; Delrue M.A.; Arveiler B.; Lacombe D.; Goizet C.; Coupry I.;
J. Hum. Genet. 61:693-699(2016)
Cited for: VARIANTS OPD2 SER-187 AND GLY-196; VARIANTS OPD1 LEU-207; THR-267; ASP-804 AND HIS-2391; VARIANTS FMD1 VAL-1142; LEU-1186 AND ARG-1840; VARIANTS MNS LEU-1163 AND THR-1188;
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.