Variant position: 574 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 859 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 EGKYSVAEVFITLLDVNDHP PQFGKSVQKKTMVLGTPVKIE
Mouse DGRYSLAEVFVTLLDVNDHY PQFVQSVQEKTMVLGTPLKIE
Rat DGRYSLAEVFVTLLDVNDHY PQFVQSVQEKTMVLGTPLKIE
Bovine EGRYSLAEVFITLLDVNDHY PQFGKSVQEKTMVLGTPVKIE
Chicken DGKYSLAEVFITVLDVNDHS PEFNENIQEKTMIIGSPVKIE
Xenopus laevis EGKYSLAEVFVTVLDINDHS PEFSENIQEKTLIIGTPVKIE
Zebrafish EGKYSLAEVFVTITDLNDHP PAFNENSLEQTMVIGAPVKIE
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
20 – 859 Cadherin-related family member 1
20 – 700 Extracellular
473 – 576 Cadherin 5
573 – 688 Cadherin 6
Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.
Nikopoulos K.; Avila-Fernandez A.; Corton M.; Lopez-Molina M.I.; Perez-Carro R.; Bontadelli L.; Di Gioia S.A.; Zurita O.; Garcia-Sandoval B.; Rivolta C.; Ayuso C.;
Sci. Rep. 5:13902-13902(2015)
Cited for: VARIANT CORD15 ALA-574;
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