Variant position: 68 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 422 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 VSNGCVSKILGRYYETGSIR PRAIGGSKPRVATPEVVSKIA
Mouse VSNGCVSKILGRYYETGSIR PRAIGGSKPRVATPEVVSKIA
Rat VSNGCVSKILGRYYETGSIR PRAIGGSKPRVATPEVVSKIA
Bovine VSNGCVSKILGRYYETGSIR PRAIGGSKPRVATPEVVSKIA
Xenopus laevis VSNGCVSKILGRYYETGSIR PRAIGGSKPRVATPEVVNKIA
Zebrafish VSNGCVSKILGRYYETGSIR PRAIGGSKPRVATPEVVGKIA
Drosophila VSNGCVSKILGRYYETGSIR PRAIGGSKPRVATAEVVSKIS
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 – 422 Paired box protein Pax-6
4 – 130 Paired
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
Azuma N.; Yamaguchi Y.; Handa H.; Tadokoro K.; Asaka A.; Kawase E.; Yamada M.;
Am. J. Hum. Genet. 72:1565-1570(2003)
Cited for: INVOLVEMENT IN OPTIC-NERVE MALFORMATIONS; VARIANT MORNING GLORY DISK ANOMALY SER-68; VARIANT COLON SER-258; VARIANT COAD SER-258; VARIANT ASGD5 PRO-363; VARIANTS BONH ILE-292; ARG-378; VAL-381 AND ALA-391;
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.