Variant position: 444 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 455 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 KLTPISILYIDAGNNVVYKQ YEDMVVESCGCR
Mouse KLTPISILYIDAGNNVVYKQ YEDMVVESCGCR
Rat KLTPISILYIDAGNNVVYKQ YEDMVVESCGCR
Bovine KLTPISILYIDAGNNVVYKQ YEEMVVESCGCR
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.
A New Subtype of Multiple-Synostoses Syndrome is Caused by a Mutation in GDF6 that Decreases its Sensitivity to Noggin and Enhances its Potency as a BMP Signal.
Wang J.; Yu T.; Wang Z.; Ohte S.; Yao R.E.; Zheng Z.; Geng J.; Cai H.; Ge Y.; Li Y.; Xu Y.; Zhang Q.; Gusella J.F.; Fu Q.; Pregizer S.; Rosen V.; Shen Y.;
J. Bone Miner. Res. 31:882-889(2016)
Cited for: INVOLVEMENT IN SYNS4; VARIANT SYNS4 ASN-444; CHARACTERIZATION OF VARIANT SYNS4 ASN-444; FUNCTION;
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.