Variant position: 136 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 579 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 TPTITTSQAAGTP--KGQQESG VSPSPQSTCGGLLSGPRGFFS
Mouse TPNTTTTTTTTTPARTGQQEAA MSPTHQTTCGGLLPGPSGF
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
1 – 579 Membrane frizzled-related protein
91 – 579 Extracellular
Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.
Mandal M.N.A.; Heckenlively J.R.; Burch T.; Chen L.; Vasireddy V.; Koenekoop R.K.; Sieving P.A.; Ayyagari R.;
Invest. Ophthalmol. Vis. Sci. 46:3355-3362(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT MET-136;
Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations.
Pauer G.J.T.; Xi Q.; Zhang K.; Traboulsi E.I.; Hagstrom S.A.;
Ophthalmic Genet. 26:157-161(2005)
Cited for: VARIANTS GLY-54; VAL-119; MET-136; SER-449 AND HIS-514;
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