UniProtKB/Swiss-Prot Q99571: Variant p.Gly135Ser

P2X purinoceptor 4
Gene: P2RX4
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Variant information Variant position:

135 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 Glycine (G) to Serine (S) at position 135 (G135S, p.Gly135Ser). 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 glycine (G) to small size and polar (S) 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
Variant description:

Does not change protein expression; does not affect membrane subcellular location; increases ATP-induced inward current. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs765866317 [ dbSNP | Ensembl ]

Sequence information Variant position:

135 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:

LCPEIPDATTVCKSDASCTA G SAGTHSNGVSTGRCVAFNGS 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                         LCPEIPDATTVCKSDASCTAGSAGTHSNGVSTGRCVAFNGS

Mouse                         TCPEIPDKTSICDSDANCTLGSSDTHSSGIGTGRCVPFNAS

Rat                           TCPEIPDKTSICNSDADCTPGSVDTHSSGVATGRCVPFNES

Bovine                        LCPEIPGKTTVCETDANCTAGSAGTHSSGVATGRCVSFNGT

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
Glycosylation	153 – 153	N-linked (GlcNAc...) asparagine
Disulfide bond	116 – 165
Disulfide bond	126 – 149
Disulfide bond	132 – 159
Mutagenesis	119 – 119	I -> V. Does not change ATP-induced inward current. Does not change affinity for ATP.

Literature citations
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.