UniProtKB/Swiss-Prot O43918: Variant p.Pro252Leu

Autoimmune regulator
Gene: AIRE
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Variant information Variant position:

252 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Proline (P) to Leucine (L) at position 252 (P252L, p.Pro252Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

In APS1; benign; does not affect transcriptional transactivation activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs34397615 [ dbSNP | Ensembl ]

Sequence information Variant position:

252 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:

TPSKFEDSGSGKNKARSSSG P KPLVRAKGAQGAAPGGGEAR 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                         TPSKFED-SGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEAR

Mouse                         TPNKFEDPSGNLKNKARSGSSLKPVVRAKGAQVTIPGRDEQ

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	181 – 280	SAND
Region	234 – 290	Disordered
Alternative sequence	1 – 292	MATDAALRRLLRLHRTEIAVAVDSAFPLLHALADHDVVPEDKFQETLHLKEKEGCPQAFHALLSWLLTQDSTAILDFWRVLFKDYNLERYGRLQPILDSFPKDVDLSQPRKGRKPPAVPKALVPPPRLPTKRKASEEARAAAPAALTPRGTASPGSQLKAKPPKKPESSAEQQRLPLGNGIQTMSASVQRAVAMSSGDVPGARGAVEGILIQQVFESGGSKKCIQVGGEFYTPSKFEDSGSGKNKARSSSGPKPLVRAKGAQGAAPGGGEARLGQQGSVPAPLALPSDPQLH -> MWLVYSSGAPGTQQPARNRVFFPIGMAPGGVCWRPDGWGTGGQGRISGPGSMGAGQRLGSSGTQRCCWGSCFGKEVALRRVLHPS. In isoform 2, isoform 3 and isoform 4.

Literature citations
Delineation of the molecular defects in the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients from Southern Italy.
Meloni A.; Perniola R.; Faa V.; Corvaglia E.; Cao A.; Rosatelli M.C.;
J. Clin. Endocrinol. Metab. 87:841-846(2002)
Cited for: VARIANTS APS1 ARG-78; LEU-252 AND LEU-539; Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.
Ilmarinen T.; Eskelin P.; Halonen M.; Rueppell T.; Kilpikari R.; Torres G.D.; Kangas H.; Ulmanen I.;
Hum. Mutat. 26:322-331(2005)
Cited for: CHARACTERIZATION OF VARIANTS APS1 PRO-28; CYS-85; TRP-228 AND LEU-252;

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.