UniProtKB/Swiss-Prot Q99572: Variant p.Tyr155His

P2X purinoceptor 7
Gene: P2RX7
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Variant information Variant position:

155 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 Tyrosine (Y) to Histidine (H) at position 155 (Y155H, p.Tyr155His). 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 large size and aromatic (Y) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 rs208294 [ dbSNP | Ensembl ]

Sequence information Variant position:

155 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:

CKKGWMDPQSKGIQTGRCVV Y EGNQKTCEVSAWCPIEAVEE 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                         CKKGWMDPQSKGIQTGRCVVYEGNQKTCEVSAWCPIEAVEE

Mouse                         CKKGWMDPQSKGIQTGRCVPYDKTRKTCEVSAWCPTEEEKE

Rat                           CIKGWMDPQSKGIQTGRCIPYDQKRKTCEIFAWCPAEEGKE

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
Topological domain	47 – 328	Extracellular
Disulfide bond	119 – 168
Disulfide bond	135 – 162
Alternative sequence	4 – 292	Missing. In isoform F.
Alternative sequence	8 – 177	Missing. In isoform D.
Alternative sequence	129 – 595	Missing. In isoform C.

Literature citations
The permeabilizing ATP receptor, P2X7. Cloning and expression of a human cDNA.
Rassendren F.; Buell G.N.; Virginio C.; Collo G.; North R.A.; Surprenant A.;
J. Biol. Chem. 272:5482-5486(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A); FUNCTION; VARIANTS HIS-155 AND HIS-270; A truncated P2X7 receptor variant (P2X7-j) endogenously expressed in cervical cancer cells antagonizes the full-length P2X7 receptor through hetero-oligomerization.
Feng Y.H.; Li X.; Wang L.; Zhou L.; Gorodeski G.I.;
J. Biol. Chem. 281:17228-17237(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM J); VARIANT HIS-155; 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; Identification and characterization of splice variants of the human P2X7 ATP channel.
Cheewatrakoolpong B.; Gilchrest H.; Anthes J.C.; Greenfeder S.;
Biochem. Biophys. Res. Commun. 332:17-27(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS B; C; D; E; F; G AND H); ALTERNATIVE SPLICING; TISSUE SPECIFICITY; VARIANTS HIS-155 AND HIS-270; A P2RX7 single nucleotide polymorphism haplotype promotes skipping of exons 7 and 8 increasing levels of P2XL, a novel protein isoform that forms a trimeric complex with full-length P2X7.
Skarratt K.K.; Fuller S.J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM J); VARIANT HIS-155; 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] (ISOFORMS A AND D); VARIANTS HIS-155; HIS-270 AND ALA-496; 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.