Variant position: 244 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 KRWGGSSVMAEYGLYGAMVR HCIPLPDSVLNSAEGGLLGSC
Mouse KRWGGSSVMAEYGLYGAMVR HCIPLPDSVLNSADS-LQGSC
Bovine KRWGGSSVMAEYGLYGAMVR HCIPLPDSVLGSGEGGLLGSC
Chicken KCWGRSSVMAEYGLYGAMVR HSIPLPESIINSAKSGLVGSC
Xenopus laevis KCWGRSSVMAEYGLYGAMVR HSIPLPESIINSAKNGLVGSC
Zebrafish KCWGRSSVMAEYGLYGAMVR HSIPLPESIINSAKSGMMGSC
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: a gene for posterior polymorphous dystrophy and keratoconus.
Heon E.; Greenberg A.; Kopp K.K.; Rootman D.; Vincent A.L.; Billingsley G.; Priston M.; Dorval K.M.; Chow R.L.; McInnes R.R.; Heathcote G.; Westall C.; Sutphin J.E.; Semina E.; Bremner R.; Stone E.M.;
Hum. Mol. Genet. 11:1029-1036(2002)
Cited for: TISSUE SPECIFICITY; VARIANTS KTCN1 MET-159; ASP-160; TRP-166; ARG-244 AND ARG-247; VARIANT GLU-144;
Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.
Tang Y.G.; Picornell Y.; Su X.; Li X.; Yang H.; Rabinowitz Y.S.;
Cited for: VARIANT KTCN1 MET-159; VARIANT ARG-244;
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.