Variant position: 234 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1218 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 QNGNKTCMEGWMGPECNRAI CRQGCSPKHGSCKLPGDCRCQ
Mouse QNGNKTCMEGWMGPDCNKAI CRQGCSPKHGSCKLPGDCRCQ
Rat QNGNKTCMEGWMGPECNKAI CRQGCSPKHGSCKLPGDCRCQ
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.
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of Jagged 1.
Le Caignec C.; Lefevre M.; Schott J.J.; Chaventre A.; Gayet M.; Calais C.; Moisan J.P.;
Am. J. Hum. Genet. 71:180-186(2002)
Cited for: INVOLVEMENT IN DCHE; VARIANT DCHE TYR-234;
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Bauer R.C.; Laney A.O.; Smith R.; Gerfen J.; Morrissette J.J.; Woyciechowski S.; Garbarini J.; Loomes K.M.; Krantz I.D.; Urban Z.; Gelb B.D.; Goldmuntz E.; Spinner N.B.;
Hum. Mutat. 31:594-601(2010)
Cited for: VARIANTS SER-664; GLN-937 AND GLN-1104; CHARACTERIZATION OF VARIANTS SER-664 AND GLN-937; VARIANT TOF LEU-810; CHARACTERIZATION OF VARIANTS TOF ASP-274 AND LEU-810; CHARACTERIZATION OF VARIANT ALGS1 SER-37; CHARACTERIZATION OF VARIANT DCHE TYR-234; FUNCTION;
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