Variant position: 37 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 332 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 PNFA-DSHHRSILLASSGGGN GAGGGGGAGGGSGGGNGAGGG
Mouse PNFA-DSHHCSLLLASSGGGS GASGGGGGAGGGGGGNRAGG
Chicken PNFAADPHHRSLLLASGGSGS GSGCSPGAGG----------
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 – 332 Homeobox protein SIX3
Mutations in the human SIX3 gene in holoprosencephaly are loss of function.
Domene S.; Roessler E.; El-Jaick K.B.; Snir M.; Brown J.L.; Velez J.I.; Bale S.; Lacbawan F.; Muenke M.; Feldman B.;
Hum. Mol. Genet. 17:3919-3928(2008)
Cited for: FUNCTION IN EYE DEVELOPMENT AND FOREBRAIN DORSAL/VENTRAL PATTERN FORMATION; INVOLVEMENT IN HPE2; VARIANTS HPE2 CYS-37; ASP-93; CYS-113; LEU-114; ASP-138; ILE-157; VAL-172; HIS-174; VAL-213; TRP-218; PRO-218; PRO-227; CYS-244; LEU-254; LEU-258; HIS-262; SER-269 AND LEU-297;
Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.
Hehr U.; Pineda-Alvarez D.E.; Uyanik G.; Hu P.; Zhou N.; Hehr A.; Schell-Apacik C.; Altus C.; Daumer-Haas C.; Meiner A.; Steuernagel P.; Roessler E.; Winkler J.; Muenke M.;
Hum. Genet. 127:555-561(2010)
Cited for: INVOLVEMENT IN SCHZC; VARIANTS SCHZC CYS-37 AND SER-167;
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.