UniProtKB/Swiss-Prot P30926: Variant p.Ser140Gly

Neuronal acetylcholine receptor subunit beta-4
Gene: CHRNB4
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Variant information Variant position:

140 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 Serine (S) to Glycine (G) at position 140 (S140G, p.Ser140Gly). 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 polar (S) to glycine (G) 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 rs56218866 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NADGTYEVSVYTNLIVRSNG S VLWLPPAIYKSACKIEVKYF 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                         NADGTYEVSVYTNLIVRSNGSVLWLPPAIYKSACKIEVKYF

Mouse                         NADGTYEVSVYTNVIVRSNGSIQWLPPAIYKSACKIEVKHF

Rat                           NADGTYEVSVYTNVIVRSNGSIQWLPPAIYKSACKIEVKHF

Bovine                        NADGSYEVSLYTNVVVRSNGSVMWLPPAICKSACKIEVKHF

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	22 – 498	Neuronal acetylcholine receptor subunit beta-4
Topological domain	22 – 236	Extracellular
Site	134 – 134	Key residue for a low dissociation (K(off)) from the conotoxin BuIA
Glycosylation	138 – 138	N-linked (GlcNAc...) asparagine
Alternative sequence	120 – 217	NADGTYEVSVYTNLIVRSNGSVLWLPPAIYKSACKIEVKYFPFDQQNCTLKFRSWTYDHTEIDMVLMTPTASMDDFTPSGEWDIVALPGRRTVNPQDP -> KSLRTGSTWLWWWTGCSCGCSCLCASWALWGSSYRPSSRPMQLLRGPTLPSVTEGPLGCGVRGCEWPGGHFAASFWVVADEALSKYVSIGHQPHQTSHSRGTGKDGGLGCPL. In isoform 2.
Beta strand	140 – 143

Literature citations
Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.
Lev-Lehman E.; Bercovich D.; Xu W.; Stockton D.W.; Beaudet A.L.;
J. Hum. Genet. 46:362-366(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS TRP-136; GLY-140 AND VAL-467;

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.