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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P78504: Variant p.Arg184His

Protein jagged-1
Gene: JAG1
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Variant information Variant position: help 184 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 Arginine (R) to Histidine (H) at position 184 (R184H, p.Arg184His). 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 large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In ALGS1; loss of expression at the cell membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 184 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 SRQWQTLKQNTGVAHFEYQI R VTCDDYYYGFGCNKFCRPRD 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                         SRQWQTLKQNTGVAHFEYQIRVTCDDYYYGFGCNKFCRPRD

Mouse                         SRQWQTLKQNTGIAHFEYQIRVTCDDHYYGFGCNKFCRPRD

Rat                           SRQWQTLKQNTGIAHFEYQIRVTCDDHYYGFGCNKFCRPRD
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
Beta strand 174 – 187



Literature citations
Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families.
Krantz I.D.; Colliton R.P.; Genin A.; Rand E.B.; Li L.; Piccoli D.A.; Spinner N.B.;
Am. J. Hum. Genet. 62:1361-1369(1998)
Cited for: VARIANTS ALGS1 CYS-184 AND HIS-184; DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian Alagille syndrome patients.
Heritage M.L.; MacMillan J.C.; Anderson G.J.;
Hum. Mutat. 20:481-481(2002)
Cited for: VARIANTS ALGS1 SER-39; HIS-184 AND ARG-913; Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Sullivan J.M.; Motley W.W.; Johnson J.O.; Aisenberg W.H.; Marshall K.L.; Barwick K.E.; Kong L.; Huh J.S.; Saavedra-Rivera P.C.; McEntagart M.M.; Marion M.H.; Hicklin L.A.; Modarres H.; Baple E.L.; Farah M.H.; Zuberi A.R.; Lutz C.M.; Gaudet R.; Traynor B.J.; Crosby A.H.; Sumner C.J.;
J. Clin. Invest. 130:1506-1512(2020)
Cited for: VARIANTS CMT2HH ARG-577 AND PRO-650; INVOLVEMENT IN CMT2HH; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ALGS1 HIS-184; CHARACTERIZATION OF VARIANTS CMT2HH ARG-577 AND PRO-650;
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.