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UniProtKB/Swiss-Prot P22303: Variant p.His353Asn

Acetylcholinesterase
Gene: ACHE
Variant information

Variant position:  353
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Histidine (H) to Asparagine (N) at position 353 (H353N, p.His353Asn).
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 polar.
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

Polymorphism:  ACHE is responsible for the Yt blood group system [MIM:112100]. The molecular basis of the Yt(a)=Yt1/Yt(b)=Yt2 blood group antigens is a single variation in position 353; His-353 corresponds to Yt(a) and the rare variant with Asn-353 to Yt(b).
Additional information on the polymorphism described.

Variant description:  In Yt(b) antigen.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  353
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  614
The length of the canonical sequence.

Location on the sequence:   VVDGDFLSDTPEALINAGDF  H GLQVLVGVVKDEGSYFLVYG
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                         VVDGDFLSDTPEAL-------------------------------------------INAGDFHG---------------------------------------------------------------------------------------------------------------------------LQVLVGVVKDEGSYFLVYG-

Mouse                         VVDGDFLSDTPEAL---------------------------

Rat                           VVDGDFLSDTPDAL---------------------------

Bovine                        VVDGDFLSDTPEAL---------------------------

Cat                           VVDGDFLSDTPEAL---------------------------

Chicken                       VVDGDFVVDSPDVALWGDYGVKGGEGGHGVEGGDGGYGVKG

Zebrafish                     VVDGVFFPDTPDAM---------------------------

Drosophila                    TIDGAFLPADPMTL---------------------------

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 32 – 614 Acetylcholinesterase
Active site 365 – 365 Charge relay system
Binding site 368 – 368 Galanthamine
Binding site 368 – 368 Huperzine A
Mutagenesis 365 – 365 E -> A. Loss of activity.


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-34; ALA-135 AND ASN-353;

Mutation at codon 322 in the human acetylcholinesterase (ACHE) gene accounts for YT blood group polymorphism.
Bartels C.F.; Zelinski T.; Lockridge O.;
Am. J. Hum. Genet. 52:928-936(1993)
Cited for: VARIANT BLOOD GROUP YT(B) ASN-353;

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.