Variant position: 388 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 584 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 SYYCSTEHALCGKPDQIEGS LAAFLPDLSLAKRKTWRNPWR
Mouse SYYCSTEHALCGRPDQIEGS LAAFLPDLSLAKRKTWRNPWR
Caenorhabditis elegans DYYCDTTHAICGLPDMKEGS VQVFLPDESAVPRKHNRSPYR
Drosophila SYYCDTSHAICGNPDMLEGS FAAFLPNFESGNRKLWRHPWR
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
93 – 584 Extracellular serine/threonine protein kinase FAM20C
354 – 565 Kinase domain
408 – 408 R -> A. Reduced kinase activity.
Secreted kinase phosphorylates extracellular proteins that regulate biomineralization.
Tagliabracci V.S.; Engel J.L.; Wen J.; Wiley S.E.; Worby C.A.; Kinch L.N.; Xiao J.; Grishin N.V.; Dixon J.E.;
Cited for: FUNCTION; CATALYTIC ACTIVITY; MANGANESE-BINDING; MUTAGENESIS OF ASP-478; VARIANTS RNS ASN-258; ARG-280; SER-328; ARG-379; GLU-379; ARG-388; ASN-451 AND TRP-549; CHARACTERIZATION OF VARIANTS RNS SER-328 AND ASN-451;
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
Simpson M.A.; Hsu R.; Keir L.S.; Hao J.; Sivapalan G.; Ernst L.M.; Zackai E.H.; Al-Gazali L.I.; Hulskamp G.; Kingston H.M.; Prescott T.E.; Ion A.; Patton M.A.; Murday V.; George A.; Crosby A.H.;
Am. J. Hum. Genet. 81:906-912(2007)
Cited for: VARIANTS RNS ARG-379; GLU-379; ARG-388 AND TRP-549;
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.