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UniProtKB/Swiss-Prot Q8IXL6: Variant p.Pro328Ser

Extracellular serine/threonine protein kinase FAM20C
Gene: FAM20C
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Variant information Variant position: help 328
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Serine (S) at position 328 (P328S, p.Pro328Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In RNS; mild non-lethal form; decreased protein kinase activity; FAM20A is still able to increase remaining protein kinase activity.
Other resources: help


Sequence information Variant position: help 328
Protein sequence length: help 584
Location on the sequence: help HNAEIAAFHLDRILDFRRVP P VAGRMVNMTKEIRDVTRDKK
Residue conservation: help 
Human                         HNAEIAAFHLDRILDFRRVPPVAGRMVNMTKEIRDVTRDKK

Mouse                         HNAEIAAFHLDRILDFRRVPPVAGRMINMTKEIRDVTRDKK

Caenorhabditis elegans        HHAEIATFHLDRVLGFRRAIPTVGRVLNMTTELFEKA-EKK

Drosophila                    HNAEIAAFHLDRILGFRRAMPVAGRTLNITTEIYQLA-EEN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 93 – 584 Extracellular serine/threonine protein kinase FAM20C
Topological domain 32 – 584 Lumenal
Glycosylation 335 – 335 N-linked (GlcNAc...) asparagine
Alternative sequence 1 – 332 Missing. In isoform 2.
Mutagenesis 311 – 311 E -> A. Reduced kinase activity.
Mutagenesis 335 – 335 N -> A. Impaired secretion; when associated with A-101 and A-470.



Literature citations
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.;
Science 336:1150-1153(2012)
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; A secretory kinase complex regulates extracellular protein phosphorylation.
Cui J.; Xiao J.; Tagliabracci V.S.; Wen J.; Rahdar M.; Dixon J.E.;
Elife 4:0-0(2015)
Cited for: FUNCTION; CATALYTIC ACTIVITY; ACTIVITY REGULATION; INTERACTION WITH FAM20A; MUTAGENESIS OF GLU-306 AND ASP-478; VARIANTS RNS MET-268 AND SER-328; CHARACTERIZATION OF VARIANTS RNS MET-268 AND SER-328;
Disclaimer: 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.