UniProtKB/Swiss-Prot Q99571: Variant p.Tyr315Cys

P2X purinoceptor 4
Gene: P2RX4
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Variant information Variant position:

315 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 Cysteine (C) at position 315 (Y315C, p.Tyr315Cys). 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 (C) 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
Variant description:

May influence susceptibility to multiple sclerosis in the presence of variants M-205 and S-361 in P2RX7; does not affect membrane subcellular location; reduces ATP-induced inward current; decreases affinity for ATP. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs28360472 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RFAKYYRDLAGNEQRTLIKA Y GIRFDIIVFGKAGKFDIIPT 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                         RFAKYYRDLAGNEQRTLIKAYGIRFDIIVFGKAGKFDIIPT

Mouse                         RFAKYYRDLAGNEQRTLTKAYGIRFDIIVFGKAGKFDIIPT

Rat                           RFAKYYRDLAGKEQRTLTKAYGIRFDIIVFGKAGKFDIIPT

Bovine                        RFAKYYSDLKGAEHRTLIKAYGIRFDIIVFGKAGKFDIIPT

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 – 388	P2X purinoceptor 4
Topological domain	55 – 338	Extracellular
Binding site	295 – 295
Binding site	295 – 295
Binding site	313 – 313
Binding site	313 – 313

Literature citations
Human P2X purinoceptor.
Takahashi K.; Korenaga R.; Kamiya A.; Ando J.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 35-388 (ISOFORM 1); VARIANT CYS-315; A loss-of-function polymorphism in the human P2X4 receptor is associated with increased pulse pressure.
Stokes L.; Scurrah K.; Ellis J.A.; Cromer B.A.; Skarratt K.K.; Gu B.J.; Harrap S.B.; Wiley J.S.;
Hypertension 58:1086-1092(2011)
Cited for: VARIANTS GLY-242 AND CYS-315; CHARACTERIZATION OF VARIANTS SER-6; GLY-242 AND CYS-315; MUTAGENESIS OF ILE-119; FUNCTION; 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: VARIANT CYS-315; CHARACTERIZATION OF VARIANT CYS-315; SUBCELLULAR LOCATION; 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 CYS-3; SER-135; GLY-242 AND CYS-315; CHARACTERIZATION OF VARIANT SER-135; 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.