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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NR23: Variant p.Leu305Pro

Growth/differentiation factor 3
Gene: GDF3
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Variant information Variant position: help 305
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 305 (L305P, p.Leu305Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In MCOP7; also detected in a patient with bilateral iris coloboma; reduces the amount of active ligand secreted.
Other resources: help


Sequence information Variant position: help 305
Protein sequence length: help 364
Location on the sequence: help PKGFMANYCHGECPFSLTIS L NSSNYAFMQALMHAVDPEIP
Residue conservation: help 
Human                         PKGFMANYCHGECPFSLTISLNSSNYAFMQALMHAVDPE-IP

Mouse                         PKGFMANYCHGECPFSMTTYLNSSNYAFMQALMHMADPK-V

Xenopus laevis                PRGYMANYCHGECPYPLTEMLRGTNHAVLQTLVHSVEPENT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 251 – 364 Growth/differentiation factor 3
Glycosylation 306 – 306 N-linked (GlcNAc...) asparagine
Disulfide bond 264 – 329
Disulfide bond 293 – 361
Disulfide bond 297 – 363



Literature citations
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
Ye M.; Berry-Wynne K.M.; Asai-Coakwell M.; Sundaresan P.; Footz T.; French C.R.; Abitbol M.; Fleisch V.C.; Corbett N.; Allison W.T.; Drummond G.; Walter M.A.; Underhill T.M.; Waskiewicz A.J.; Lehmann O.J.;
Hum. Mol. Genet. 19:287-298(2010)
Cited for: VARIANT KFS3 CYS-266; VARIANTS MCOP7 GLN-195 AND PRO-305; VARIANTS MCOPCB6 CYS-266 AND TRP-274; CHARACTERIZATION OF VARIANTS MCOP7 GLN-195 AND PRO-305; CHARACTERIZATION OF VARIANT KFS3 CYS-266; SUBCELLULAR LOCATION;
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.