Variant position: 727 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1580 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 PGGQSSCSSQQSPISNYSNS GLELPLTDGGSIGDLSAIDET
Chimpanzee PGGQSSCSSQQSPISNYSNS GLELPLTDGGSIGDLSAIDET
Mouse PGGQSSCSSQQSPISNYSNS GLELPLTDGGSVADLSAIDET
Xenopus laevis PGGKSSCSRQQSPISNYTNS GIELNLNSGGSIGDFSALDET
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 – 1580 Transcriptional activator GLI3
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations.
Radhakrishna U.; Bornholdt D.; Scott H.S.; Patel U.C.; Rossier C.; Engel H.; Bottani A.; Chandal D.; Blouin J.-L.; Solanki J.V.; Grzeschik K.-H.; Antonarakis S.E.;
Am. J. Hum. Genet. 65:645-655(1999)
Cited for: VARIANT PAPA1 ARG-727; VARIANT PAPB ARG-727; INVOLVEMENT IN PAPA1; INVOLVEMENT IN PAPB; INVOLVEMENT IN PHS; INVOLVEMENT IN POP4;
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.