Variant position: 109 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 349 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 ERTVFGKELKVGSREAAFTY AIIAAGVAHAITAACTQGNLS
Gorilla ERTVFGKELKVGSREAAFTY AIIAAGVAHAITAACTQGNLS
Chimpanzee ERTVFGKELKVGSREAAFTY AIIAAGVAHAITAACTQGNLS
Mouse ERTVFGKELKVGSREAAFTY AIIAAGVAHAITAACTQGNLS
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.
Type Positions Description
32 – 349 Protein Wnt-7a
127 – 127 N-linked (GlcNAc...) asparagine
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
Woods C.G.; Stricker S.; Seemann P.; Stern R.; Cox J.; Sherridan E.; Roberts E.; Springell K.; Scott S.; Karbani G.; Sharif S.M.; Toomes C.; Bond J.; Kumar D.; Al-Gazali L.; Mundlos S.;
Am. J. Hum. Genet. 79:402-408(2006)
Cited for: VARIANT FUHRS THR-109; VARIANT LPHAS CYS-292; CHARACTERIZATION OF VARIANT FUHRS THR-109; CHARACTERIZATION OF VARIANT LPHAS CYS-292; INVOLVEMENT IN FUHRS; INVOLVEMENT IN LPHAS; 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.