Variant position: 256 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 365 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 GLYGAMVRHCIPLPDSVLNS AEGGLLGSCAPWLLG----MHKKSM
Mouse GLYGAMVRHCIPLPDSVLNS ADS-LQGSCAPWLLG----MH
Bovine GLYGAMVRHCIPLPDSVLGS GEGGLLGSCAPWLLG----MH
Chicken GLYGAMVRHSIPLPESIINS AKSGLVGSCAPWLLG----MH
Xenopus laevis GLYGAMVRHSIPLPESIINS AKNGLVGSCAPWLLG----MH
Zebrafish GLYGAMVRHSIPLPESIINS AKSGMMGSCAPWLLGEPAGMH
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 – 365 Visual system homeobox 1
224 – 277 CVC
144 – 365 Missing. In isoform 4.
219 – 365 Missing. In isoform 6.
237 – 365 Missing. In isoform 7.
240 – 365 Missing. In isoform 2 and isoform 3.
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
Mintz-Hittner H.A.; Semina E.V.; Frishman L.J.; Prager T.C.; Murray J.C.;
Cited for: VARIANT CAASDS SER-256; VARIANT SER-131;
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