Variant position: 118 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 500 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 AYAIFLMERIFDVQLPHYSP SDEKARMKLTLLHRELQALTE
Mouse PYAIFLMERIFDLQLPNFNP SEEKARMKPTLMHRDLQALTE
Rat PYAIFLMERIFDLQLPNFNP SEEKARMKPTLMHKDLQALTE
Bovine AYAVFLMERIFDVQLPHYNP GDEKSKMKPTLLHKELQALTD
Zebrafish SYAQVLMKRIFNMILPSHNP ESEKKRAEMHFQGASLTQLSN
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.
Characterization of new mutations in the coding sequence and 5'-untranslated region of the human prostacyclin synthase gene (CYP8A1).
Chevalier D.; Cauffiez C.; Bernard C.; Lo-Guidice J.-M.; Allorge D.; Fazio F.; Ferrari N.; Libersa C.; Lhermitte M.; D'Halluin J.C.; Broly F.;
Hum. Genet. 108:148-155(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS LEU-38; ARG-118 AND SER-379;
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.