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UniProtKB/Swiss-Prot P30926: Variant p.Met467Val

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

Variant position:  467
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 Methionine (M) to Valine (V) at position 467 (M467V, p.Met467Val).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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.



Sequence information

Variant position:  467
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:   VVEDWKYVAMVVDRLFLWVF  M FVCVLGTVGLFLPPLFQTHA
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                         VVEDWKYVAMVVDRLFLWVFMFVCVLGTVGLFLPPLFQTHA

Mouse                         VIEDWKFVAMVVDRLFLWVFVIVCILGTMGLFLPPLFQIHA

Rat                           VIEDWKFVAMVVDRLFLWVFVFVCILGTMGLFLPPLFQIHA

Bovine                        VIEDWKYVAMVVDRLFLWVFVVVCVLGTVGLFLPPLFQTHT

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.

TypePositionsDescription
Chain 22 – 498 Neuronal acetylcholine receptor subunit beta-4
Transmembrane 461 – 481 Helical
Alternative sequence 218 – 498 Missing. In isoform 2.
Helix 422 – 477


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.