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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78504: Variant p.Gly274Asp

Protein jagged-1
Gene: JAG1
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Variant information Variant position: help 274 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Aspartate (D) at position 274 (G274D, p.Gly274Asp). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In TOF; temperature sensitive mutation; the protein is abnormally glycosylated and retained intracellularly; unable to activate Notch signaling. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 274 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1218 The length of the canonical sequence.
Location on the sequence: help QYGWQGLYCDKCIPHPGCVH G ICNEPWQCLCETNWGGQLCD 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         QYGWQGLYCDKCIPHPGCVHGICNEPWQCLCETNWGGQLCD

Mouse                         QYGWQGLYCDKCIPHPGCVHGTCNEPWQCLCETNWGGQLCD

Rat                           QYGWQGLYCDKCIPHPGCVHGTCNEPWQCLCETNWGGQLCD
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 34 – 1218 Protein jagged-1
Topological domain 34 – 1067 Extracellular
Domain 264 – 294 EGF-like 2; atypical
Disulfide bond 265 – 276
Disulfide bond 271 – 282
Beta strand 273 – 275



Literature citations
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 AND GLN-1104; CHARACTERIZATION OF VARIANT SER-664; VARIANT TOF LEU-810; CHARACTERIZATION OF VARIANTS TOF ASP-274 AND LEU-810; CHARACTERIZATION OF VARIANTS ALGS1 SER-37 AND GLN-937; CHARACTERIZATION OF VARIANT DCHE TYR-234; FUNCTION;
Disclaimer: 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.