Variant position: 438 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 IIAPLEYEAFHCEGLCEFPL RSHLEPTNHAVIQTLMNSMDP
Mouse IIAPLEYEAFHCEGLCEFPL RSHLEPTNHAVIQTLMNSMDP
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.
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;
GDF5 is a second locus for multiple-synostosis syndrome.
Dawson K.; Seeman P.; Sebald E.; King L.; Edwards M.; Williams J. III; Mundlos S.; Krakow D.;
Am. J. Hum. Genet. 78:708-712(2006)
Cited for: VARIANT SYNS2 LEU-438;
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