Variant position: 274 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 QYGWQGLYCDKCIPHPGCVH GICNEPWQCLCETNWGGQLCD
Mouse QYGWQGLYCDKCIPHPGCVH GTCNEPWQCLCETNWGGQLCD
Rat QYGWQGLYCDKCIPHPGCVH GTCNEPWQCLCETNWGGQLCD
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 tetralogy of Fallot caused by mutation in the Jagged1 gene.
Eldadah Z.A.; Hamosh A.; Biery N.J.; Montgomery R.A.; Duke M.; Elkins R.; Dietz H.C.;
Hum. Mol. Genet. 10:163-169(2001)
Cited for: VARIANT TOF ASP-274;
Conditional JAG1 mutation shows the developing heart is more sensitive than developing liver to JAG1 dosage.
Lu F.; Morrissette J.J.D.; Spinner N.B.;
Am. J. Hum. Genet. 72:1065-1070(2003)
Cited for: CHARACTERIZATION OF VARIANT ASP-274;
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;
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.