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:
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 MQNSHSGVNQLGGVFVNG RPLPDSTRQKIVELAHSGARP
Mouse MQNSHSGVNQLGGVFVNG RPLPDSTRQKIVELAHSGARP
Rat MQNSHSGVNQLGGVFVNG RPLPDSTRQKIVELAHSGARP
Bovine MQNSHSGVNQLGGVFVNG RPLPDSTRQKIVELAHSGARP
Xenopus laevis MQNSHSGVNQLGGVFVNG RPLPDSTRQKIVELAHSGARP
Zebrafish MQNSHSGVNQLGGVFVNG RPLPDSTRQKIVELAHSGARP
Drosophila DDECHSGVNQLGGVFVGG RPLPDSTRQKIVELAHSGARP
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
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 AN 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 AN PRO-19;
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.