Variant position: 26 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 SGVNQLGGVFVNGRPLPDST RQKIVELAHSGARPCDISRIL
Mouse SGVNQLGGVFVNGRPLPDST RQKIVELAHSGARPCDISRIL
Rat SGVNQLGGVFVNGRPLPDST RQKIVELAHSGARPCDISRIL
Bovine SGVNQLGGVFVNGRPLPDST RQKIVELAHSGARPCDISRIL
Xenopus laevis SGVNQLGGVFVNGRPLPDST RQKIVELAHSGARPCDISRIL
Zebrafish SGVNQLGGVFVNGRPLPDST RQKIVELAHSGARPCDISRIL
Drosophila SGVNQLGGVFVGGRPLPDST RQKIVELAHSGARPCDISRIL
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.
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
Hanson I.M.; Fletcher J.M.; Jordan T.; Brown A.; Taylor D.; Adams R.J.; Punnet H.H.; van Heyningen V.;
Nat. Genet. 6:168-173(1994)
Cited for: VARIANT ASGD5 GLY-26;
Functional analysis of paired box missense mutations in the PAX6 gene.
Tang H.K.; Chao L.-Y.; Saunders G.F.;
Hum. Mol. Genet. 6:381-386(1997)
Cited for: VARIANT AN1 ARG-87; VARIANT GLY-26;
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.