Sequence information
Variant position: 19 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:
MQNSHSGVNQLGGVFVNG
R PLPDSTRQKIVELAHSGARP
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 MQNSHSGVNQLGGVFVNGR PLPDSTRQKIVELAHSGARP
Mouse MQNSHSGVNQLGGVFVNGR PLPDSTRQKIVELAHSGARP
Rat MQNSHSGVNQLGGVFVNGR PLPDSTRQKIVELAHSGARP
Bovine MQNSHSGVNQLGGVFVNGR PLPDSTRQKIVELAHSGARP
Xenopus laevis MQNSHSGVNQLGGVFVNGR PLPDSTRQKIVELAHSGARP
Zebrafish MQNSHSGVNQLGGVFVNGR PLPDSTRQKIVELAHSGARP
Drosophila DDECHSGVNQLGGVFVGGR PLPDSTRQKIVELAHSGARP
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
Chain
1 – 422
Paired box protein Pax-6
DNA binding
4 – 130
Paired
Region
7 – 63
PAI subdomain
Literature citations
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.
Vincent M.-C.; Pujo A.-L.; Olivier D.; Calvas P.;
Eur. J. Hum. Genet. 11:163-169(2003)
Cited for: VARIANTS AN1 PRO-19 AND 22-PRO--ARG-26 DEL;
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N.; Causse A.; Vigouroux A.; Delahaye A.; Alessandri J.L.; Boespflug-Tanguy O.; Boute-Benejean O.; Dollfus H.; Duban-Bedu B.; Gilbert-Dussardier B.; Giuliano F.; Gonzales M.; Holder-Espinasse M.; Isidor B.; Jacquemont M.L.; Lacombe D.; Martin-Coignard D.; Mathieu-Dramard M.; Odent S.; Picone O.; Pinson L.; Quelin C.; Sigaudy S.; Toutain A.; Thauvin-Robinet C.; Kaplan J.; Calvas P.;
Clin. Genet. 86:326-334(2014)
Cited for: VARIANT AN1 PRO-19;
Disclaimer:
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.