UniProtKB/Swiss-Prot P78504: Variant p.His1104Gln

Protein jagged-1
Gene: JAG1
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Variant information Variant position:

1104 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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:

From Histidine (H) to Glutamine (Q) at position 1104 (H1104Q, p.His1104Gln). 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:

Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

Found in patient with tetralogy of Fallot and pulmonary stenosis; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1250645531 [ dbSNP | Ensembl ]

Sequence information Variant position:

1104 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:

CLVTAFYWCLRKRRKPGSHT H SASEDNTTNNVREQLNQIKN 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                         CLVTAFYWCLRK-RRKPGSHTHSASEDNTTNNVREQLNQIKN

Mouse                         CLVTAFYWCVRK-RRKPSSHTHSAPEDNTTNNVREQLNQIK

Rat                           CLVTAFYWCVRKRRRKPSSHTHSAPEDNTTNNVREQLNQIK

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
Chain	34 – 1218	Protein jagged-1
Topological domain	1094 – 1218	Cytoplasmic

Literature citations
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.