Sequence information
Variant position: 331 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 541 The length of the canonical sequence.
Location on the sequence:
SNVCFFAKCPYMCKTEYAVC
G NPHLLEGSLSAFLPSLNLAP
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 SNVCFFAKCPYMCKTEYAVCG NPHLLEGSLSAFLPSLNLAP
Mouse NNVCFFAKCPYMCKTEYAVCG NPHLLEGSLSAFLPSLNLAP
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
Chain
34 – 541
Pseudokinase FAM20A
Literature citations
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; INTERACTION WITH FAM20C; MUTAGENESIS OF GLN-258; CHARACTERIZATION OF VARIANTS AI1G ARG-173; ASP-331 AND ASN-403;
FAM20A mutations can cause enamel-renal syndrome (ERS).
Wang S.K.; Aref P.; Hu Y.; Milkovich R.N.; Simmer J.P.; El-Khateeb M.; Daggag H.; Baqain Z.H.; Hu J.C.;
PLoS Genet. 9:E1003302-E1003302(2013)
Cited for: VARIANT AI1G ASP-331; SUBCELLULAR LOCATION;
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.