Variant position: 184 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 SRQWQTLKQNTGVAHFEYQI RVTCDDYYYGFGCNKFCRPRD
Mouse SRQWQTLKQNTGIAHFEYQI RVTCDDHYYGFGCNKFCRPRD
Rat SRQWQTLKQNTGIAHFEYQI RVTCDDHYYGFGCNKFCRPRD
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.
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.
Li L.; Krantz I.D.; Deng Y.; Genin A.; Banta A.B.; Collins C.C.; Qi M.; Trask B.J.; Kuo W.L.; Cochran J.; Costa T.; Pierpont M.E.M.; Rand E.B.; Piccoli D.A.; Hood L.; Spinner N.B.;
Nat. Genet. 16:243-251(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); INVOLVEMENT IN ALGS1; VARIANT ALGS1 CYS-184;
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;
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.