Variant position: 1500 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2179 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 FRFIISNGLRTEHGVFEITL ETVDRALPVVTRNKGLRLAQG
Mouse FRFTISNGLQTQRGVFEITL QTVDSALPVLTKNKRLRLAEG
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
22 – 2179 FRAS1-related extracellular matrix protein 1
1 – 1803 Missing. In isoform 3.
1 – 1587 Missing. In isoform 4.
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
Vissers L.E.L.M.; Cox T.C.; Maga A.M.; Short K.M.; Wiradjaja F.; Janssen I.M.; Jehee F.; Bertola D.; Liu J.; Yagnik G.; Sekiguchi K.; Kiyozumi D.; van Bokhoven H.; Marcelis C.; Cunningham M.L.; Anderson P.J.; Boyadjiev S.A.; Passos-Bueno M.R.; Veltman J.A.; Smyth I.; Buckley M.F.; Roscioli T.;
PLoS Genet. 7:E1002278-E1002278(2011)
Cited for: VARIANTS TRIGNO2 GLN-498 AND VAL-1500;
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.