Variant position: 441 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 PLEYEAFHCEGLCEFPLRSH LEPTNHAVIQTLMNSMDPEST
Mouse PLEYEAFHCEGLCEFPLRSH LEPTNHAVIQTLMNSMDPEST
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;
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
Faiyaz-Ul-Haque M.; Ahmad W.; Zaidi S.H.E.; Haque S.; Teebi A.S.; Ahmad M.; Cohn D.H.; Tsui L.-C.;
Clin. Genet. 61:454-458(2002)
Cited for: VARIANT DUPANS PRO-441;
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
Seemann P.; Schwappacher R.; Kjaer K.W.; Krakow D.; Lehmann K.; Dawson K.; Stricker S.; Pohl J.; Ploeger F.; Staub E.; Nickel J.; Sebald W.; Knaus P.; Mundlos S.;
J. Clin. Invest. 115:2373-2381(2005)
Cited for: VARIANT SYM1B LEU-438; VARIANT BDA2 PRO-441; CHARACTERIZATION OF VARIANT SYM1B LEU-438; CHARACTERIZATION OF VARIANT BDA2 PRO-441;
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.