Variant position: 250 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 YPNPSKKRELAQATGLTPTQ VGNWFKNRRQRDRAAAAKNRL
Mouse YPNPSKKRELAQATGLTPTQ VGNWFKNRRQRDRAAAAKNRL
Chicken YPNPSKKRELAQATGLTPTQ VGNWFKNRRQRDRAAAAKNRL
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.
Functional characterization of SIX3 homeodomain mutations in holoprosencephaly: interaction with the nuclear receptor NR4A3/NOR1.
Laflamme C.; Filion C.; Labelle Y.;
Hum. Mutat. 24:502-508(2004)
Cited for: CHARACTERIZATION OF VARIANTS HPE2 ALA-250 AND PRO-257;
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly.
Wallis D.E.; Roessler E.; Hehr U.; Nanni L.; Wiltshire T.; Richieri-Costa A.; Gillessen-Kaesbach G.; Zackai E.H.; Rommens J.; Muenke M.;
Nat. Genet. 22:196-198(1999)
Cited for: VARIANTS HPE2 VAL-226; ALA-250 AND PRO-257;
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