Variant position: 1324 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 EDSPREKIYYVFERLPQNGQ LQLKIGRDWVPLSPGMKCTQE
Mouse KDSPREKIHYVFERLPQNGQ LQLKIGRDWVPLSTGMQCTQE
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
1275 – 1372 CSPG 9
1 – 1803 Missing. In isoform 3.
1 – 1587 Missing. In isoform 4.
1 – 1464 Missing. In isoform 2.
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Slavotinek A.M.; Baranzini S.E.; Schanze D.; Labelle-Dumais C.; Short K.M.; Chao R.; Yahyavi M.; Bijlsma E.K.; Chu C.; Musone S.; Wheatley A.; Kwok P.Y.; Marles S.; Fryns J.P.; Maga A.M.; Hassan M.G.; Gould D.B.; Madireddy L.; Li C.; Cox T.C.; Smyth I.; Chudley A.E.; Zenker M.;
J. Med. Genet. 48:375-382(2011)
Cited for: VARIANTS MOTA ARG-1324 AND ILE-2091;
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.