UniProtKB/Swiss-Prot Q99572: Variant p.Ala348Thr

P2X purinoceptor 7
Gene: P2RX7
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Variant information Variant position:

348 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 Alanine (A) to Threonine (T) at position 348 (A348T, p.Ala348Thr). 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:

Change from small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Other resources:

Links to websites of interest for the variant.

Variant rs1718119 [ dbSNP | Ensembl ]

Sequence information Variant position:

348 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

595 The length of the canonical sequence.
Location on the sequence:

FDIIQLVVYIGSTLSYFGLA A VFIDFLIDTYSSNCCRSHIY 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                         FDIIQLVVYIGSTLSYFGLAAVFIDFLIDTYSSNCCRSHIY

Mouse                         FDIIQLVVYIGSTLSYFGLATVCIDLLINTYSSAFCRSGVY

Rat                           FDIIQLVVYIGSTLSYFGLATVCIDLIINTYASTCCRSRVY

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 – 595	P2X purinoceptor 7
Transmembrane	335 – 355	Helical; Name=2
Modified residue	343 – 343	Phosphotyrosine
Alternative sequence	129 – 595	Missing. In isoform C.
Alternative sequence	347 – 364	AAVFIDFLIDTYSSNCCR -> VRDSLFHALGKWFGEGSD. In isoform B, isoform E and isoform G.

Literature citations
Gene structure and chromosomal localization of the human P2X7 receptor.
Buell G.N.; Talabot F.; Gos A.; Lorenz J.; Lai E.; Morris M.A.; Antonarakis S.E.;
Recept. Channels 5:347-354(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-155 AND THR-348; A rare functional haplotype of the P2RX4 and P2RX7 genes leads to loss of innate phagocytosis and confers increased risk of age-related macular degeneration.
Gu B.J.; Baird P.N.; Vessey K.A.; Skarratt K.K.; Fletcher E.L.; Fuller S.J.; Richardson A.J.; Guymer R.H.; Wiley J.S.;
FASEB J. 27:1479-1487(2013)
Cited for: VARIANTS ALA-76; ARG-150; HIS-155; HIS-270; HIS-276; GLN-307; THR-348; SER-357; ARG-460; ALA-496 AND ASN-568; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ARG-150; FUNCTION; Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.
Sadovnick A.D.; Gu B.J.; Traboulsee A.L.; Bernales C.Q.; Encarnacion M.; Yee I.M.; Criscuoli M.G.; Huang X.; Ou A.; Milligan C.J.; Petrou S.; Wiley J.S.; Vilarino-Gueell C.;
Hum. Mutat. 38:736-744(2017)
Cited for: VARIANTS ALA-76; TRP-117; LEU-125; ARG-148; ARG-150; HIS-155; MET-205; HIS-264; HIS-270; HIS-276; HIS-288; GLN-307; THR-348; SER-357; SER-361; VAL-433; ARG-460; ALA-496; GLN-521; ILE-522; VAL-535; GLN-544 AND ASN-568; CHARACTERIZATION OF VARIANTS MET-205 AND SER-361; SUBCELLULAR LOCATION; FUNCTION;

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.