Variant position: 257 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 RELAQATGLTPTQVGNWFKN RRQRDRAAAAKNRLQHQAIGP
Mouse RELAQATGLTPTQVGNWFKN RRQRDRAAAAKNRLQHQAIGP
Chicken RELAQATGLTPTQVGNWFKN RRQRDRAAAAKNRLQHQAIGQ
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
206 – 265 Homeobox
The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes.
Paulussen A.D.; Schrander-Stumpel C.T.; Tserpelis D.C.; Spee M.K.; Stegmann A.P.; Mancini G.M.; Brooks A.S.; Collee M.; Maat-Kievit A.; Simon M.E.; van Bever Y.; Stolte-Dijkstra I.; Kerstjens-Frederikse W.S.; Herkert J.C.; van Essen A.J.; Lichtenbelt K.D.; van Haeringen A.; Kwee M.L.; Lachmeijer A.M.; Tan-Sindhunata G.M.; van Maarle M.C.; Arens Y.H.; Smeets E.E.; de Die-Smulders C.E.; Engelen J.J.; Smeets H.J.; Herbergs J.;
Eur. J. Hum. Genet. 18:999-1005(2010)
Cited for: VARIANTS HPE2 VAL-79; HIS-155 DEL; GLY-257; MET-269 AND THR-269;
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.