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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43026: Variant p.Ser475Asn

Growth/differentiation factor 5
Gene: GDF5
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Variant information Variant position: help 475
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Asparagine (N) at position 475 (S475N, p.Ser475Asn).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (N)
BLOSUM score: help 1
Variant description: help In SYNS2; reduction in binding affinity with BMPR2; no change in binding affinity with BMPR1A; no change in binding affinity with BMPR1B; decreases induction of SMAD1-SMAD5-SMAD8 protein complex phosphorylation; delay of phosphotylated SMAD1-SMAD5-SMAD8 protein complex nuclear translocation; strong reduction of SMAD protein signal transduction; reduction of chondrocyte differentiation; strong improvement of chondrogenesis; decrease of NOG binding; resistant to NOG inhibition; no chondrogenesis inhibition.
Other resources: help


Sequence information Variant position: help 475
Protein sequence length: help 501
Location on the sequence: help SMDPESTPPTCCVPTRLSPI S ILFIDSANNVVYKQYEDMVV
Residue conservation: help 
Human                         SMDPESTPPTCCVPTRLSPISILFIDSANNVVYKQYEDMVV

Mouse                         SMDPESTPPTCCVPTRLSPISILFIDSANNVVYKQYEDMVV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 382 – 501 Growth/differentiation factor 5
Disulfide bond 429 – 498
Disulfide bond 433 – 500
Disulfide bond 465 – 465 Interchain
Mutagenesis 490 – 490 Y -> N. Resitant to NOG inhibition.
Beta strand 465 – 479



Literature citations
New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
Schwaerzer G.K.; Hiepen C.; Schrewe H.; Nickel J.; Ploeger F.; Sebald W.; Mueller T.; Knaus P.;
J. Bone Miner. Res. 27:429-442(2012)
Cited for: INTERACTION WITH BMPR2; NOG; BMPR1A AND BMPR1B; FUNCTION; VARIANT BDA2 PRO-441; VARIANT SYNS2 ASN-475; CHARACTERIZATION OF VARIANT SYNS2 ASN-475; CHARACTERIZATION OF VARIANT BDA2 PRO-441; Multiple synostosis type 2 (SYNS2) maps to 20q11.2 and caused by a missense mutation in the growth/differentiation factor 5 (GDF5).
Akarsu A.N.; Rezaie T.; Demirtas M.; Farhud D.D.; Sarfarazi M.;
Cited for: VARIANT SYNS2 ASN-475;
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.