Variant position: 278 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:
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 AKGAQGAAPGGGEARLGQQG SVPAPLALPSDPQLHQKNEDE
Mouse AKGAQVTIPGRDEQKVGQQC GVPPLPSLPSEPQVNQKNEDE
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 – 545 Autoimmune regulator
181 – 280 SAND
1 – 292 MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLH -> MWLVYSSGAPGTQQPARNRVFFPIGMAPGGVCWRPDGWGTGGQGRISGPGSMGAGQRLGSSGTQRCCWGSCFGKEVALRRVLHPS. In isoform 2, isoform 3 and isoform 4.
293 – 293 Q -> PVCMGVSCLCQ. In isoform 4.
295 – 295 N -> A. Abolishes interaction with histone H3.
297 – 297 D -> A. Strongly reduces interaction with unmethylated histone H3 and abolishes interaction with histone H3 trimethylated at 'Lys-4'. No effect on doted nuclear localization. Dominant-negatif effect on target gene transcription.
298 – 298 E -> A. Reduces interaction with histone H3.
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Scott H.S.; Heino M.; Peterson P.; Mittaz L.; Lalioti M.D.; Betterle C.; Cohen A.; Seri M.; Lerone M.; Romeo G.; Collin P.; Salo M.; Metcalfe R.; Weetman A.; Papasavvas M.-P.; Rossier C.; Nagamine K.; Kudoh J.; Shimizu N.; Krohn K.J.E.; Antonarakis S.E.;
Mol. Endocrinol. 12:1112-1119(1998)
Cited for: VARIANT ARG-278;
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;
A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan.
Sato K.; Nakajima K.; Imamura H.; Deguchi T.; Horinouchi S.; Yamazaki K.; Yamada E.; Kanaji Y.; Takano K.;
Endocr. J. 49:625-633(2002)
Cited for: VARIANT APS1 CYS-15; VARIANT ARG-278;
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