Variant position: 1972 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3169 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 FDKDEREKLCRIVIIDDSLY EEEETFHVLLSMPMGGRIGSE
Mouse FDKDEREKMCRILVIDDSLY EEEETFQVLLSMPMGGRIGDK
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
47 – 3169 FRAS1-related extracellular matrix protein 2
47 – 3113 Extracellular
1871 – 1982 Calx-beta 2
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
Jadeja S.; Smyth I.; Pitera J.E.; Taylor M.S.; van Haelst M.; Bentley E.; McGregor L.; Hopkins J.; Chalepakis G.; Philip N.; Perez Aytes A.; Watt F.M.; Darling S.M.; Jackson I.; Woolf A.S.; Scambler P.J.;
Nat. Genet. 37:520-525(2005)
Cited for: IDENTIFICATION (ISOFORM 1); FUNCTION; INVOLVEMENT IN FRASRS2; VARIANT FRASRS2 LYS-1972;
A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.
Yu Q.; Lin B.; Xie S.; Gao S.; Li W.; Liu Y.; Wang H.; Huang D.; Xie Z.;
Hum. Mol. Genet. 27:2357-2366(2018)
Cited for: FUNCTION; INTERACTION WITH FREM1; INVOLVEMENT IN CRYPTOP; VARIANT CRYPTOP TRP-2167; CHARACTERIZATION OF VARIANT CRYPTOP TRP-2167; VARIANT FRASRS2 TRP-2167; CHARACTERIZATION OF VARIANTS FRASRS2 LYS-1972 AND TRP-2167;
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.