Sequence information
Variant position: 80 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 545 The length of the canonical sequence.
Location on the sequence:
HALLSWLLTQDSTAILDFWR
V LFKDYNLERYGRLQPILDSF
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 HALLSWLLTQDSTAILDFWRV LFKDYNLERYGRLQPILDSF
Mouse HALLSWLLTRDSGAILDFWRI LFKDYNLERYSRLHSILDGF
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
1 – 545
Autoimmune regulator
Domain
1 – 105
HSR
Alternative sequence
1 – 292
MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLH -> MWLVYSSGAPGTQQPARNRVFFPIGMAPGGVCWRPDGWGTGGQGRISGPGSMGAGQRLGSSGTQRCCWGSCFGKEVALRRVLHPS. In isoform 2, isoform 3 and isoform 4.
Mutagenesis
97 – 97
L -> P. Loss of transactivation activity on target gene transcription; no dominant-negative effect on target gene transcription. Loss of doted nuclear localization.
Literature citations
Mutations in the AIRE gene: effects on subcellular location and transactivation function of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy protein.
Bjeorses P.; Halonen M.; Palvimo J.J.; Kolmer M.; Aaltonen J.; Ellonen P.; Perheentupa J.; Ulmanen I.; Peltonen L.;
Am. J. Hum. Genet. 66:378-392(2000)
Cited for: SUBCELLULAR LOCATION; VARIANTS APS1 LEU-80; CYS-85; TYR-311 AND GLN-326;
APECED-causing mutations in AIRE reveal the functional domains of the protein.
Halonen M.; Kangas H.; Rueppell T.; Ilmarinen T.; Ollila J.; Kolmer M.; Vihinen M.; Palvimo J.; Saarela J.; Ulmanen I.; Eskelin P.;
Hum. Mutat. 23:245-257(2004)
Cited for: SUBCELLULAR LOCATION; HOMOOLIGOMERIZATION; CHARACTERIZATION OF VARIANTS APS1 LEU-15; MET-16; VAL-21; PRO-28; PRO-29; ARG-78; LEU-80; GLU-83; CYS-90; ARG-93; TRP-228 AND GLN-326;
APECED mutations in the autoimmune regulator (AIRE) gene.
Heino M.; Peterson P.; Kudoh J.; Shimizu N.; Antonarakis S.E.; Scott H.S.; Krohn K.J.E.;
Hum. Mutat. 18:205-211(2001)
Cited for: VARIANTS APS1 LEU-15; MET-16; PRO-28; PR0-29; ARG-78; LEU-80; GLU-83; CYS-85; CYS-90; ARG-93; MET-301; TYR-311 AND GLN-326; VARIANT ARG-278;
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.