Variant position: 475 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 501 The length of the canonical sequence.
Location on the sequence:
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 SMDPESTPPTCCVPTRLSPI SILFIDSANNVVYKQYEDMVV
Mouse SMDPESTPPTCCVPTRLSPI SILFIDSANNVVYKQYEDMVV
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.
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;
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