Variant position: 307 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 330 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 DFAKVLELDPALAPVVSREL QALEARIRQKDEEDKARFRGI
Mouse DFAKVLELDPALAPVVSREL RALETRIRQKDEEDKARFRGI
Rat DFAKVLELDPALAPVVSREL RALEARIRQKDEEDKARFRGI
Bovine DFAKVLQLDPAMAPVVSREL RALEARIRQKDEEDKARFRGI
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
1 – 330 AH receptor-interacting protein
299 – 311
XAP2, a novel hepatitis B virus X-associated protein that inhibits X transactivation.
Kuzhandaivelu N.; Cong Y.-S.; Inouye C.; Yang W.-M.; Seto E.;
Nucleic Acids Res. 24:4741-4750(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ARG-307;
Ligand-dependent interaction of the aryl hydrocarbon receptor with a novel immunophilin homolog in vivo.
Carver L.A.; Bradfield C.A.;
J. Biol. Chem. 272:11452-11456(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS LYS-228 AND ARG-307;
Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
Vierimaa O.; Georgitsi M.; Lehtonen R.; Vahteristo P.; Kokko A.; Raitila A.; Tuppurainen K.; Ebeling T.M.L.; Salmela P.I.; Paschke R.; Gundogdu S.; de Menis E.; Jaervinen M.J.; Launonen V.; Karhu A.; Aaltonen L.A.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LYS-228 AND ARG-307; INVOLVEMENT IN PITA1;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS LYS-228 AND ARG-307;
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.