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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21964: Variant p.Ala72Ser

Catechol O-methyltransferase
Gene: COMT
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Variant information Variant position: help 72
Type of variant: help LB/B
Residue change: help From Alanine (A) to Serine (S) at position 72 (A72S, p.Ala72Ser).
Physico-chemical properties: help Change from small size and hydrophobic (A) to small size and polar (S)
BLOSUM score: help 1
Polymorphism: help Two alleles, COMT*1 or COMT*H with Val-158 and COMT*2 or COMT*L with Met-158 are responsible for a three to four-fold difference in enzymatic activity.Low enzyme activity alleles are associated with genetic susceptibility to alcoholism [MIM:103780]. -
Variant description: help Correlated with reduced enzyme activity; associated with increased risk for schizophrenia.
Other resources: help


Sequence information Variant position: help 72
Protein sequence length: help 271
Location on the sequence: help GDTKEQRILNHVLQHAEPGN A QSVLEAIDTYCEQKEWAMNV
Residue conservation: help
Human                         GDTKEQRILNHVLQHAEPGNAQSVLEAIDTYCEQKEWAMNV

Mouse                         GGTKEQRILRHVQQHAKPGDPQSVLEAIDTYCSEKEWAMNV

Rat                           GDTKEQRILRYVQQNAKPGDPQSVLEAIDTYCTQKEWAMNV

Bovine                        GSSKEQRILQHVLQHAVAGDPQSVVAAIDSYSLEKEWAMHV

Horse                         GDSKEQRILRHVLQHAVAGDPQSVLETIDAYCSQKEWAMNV

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 271 Catechol O-methyltransferase
Topological domain 27 – 271 Extracellular
Binding site 92 – 92
Helix 72 – 85



Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-72 AND MET-158; Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS SER-34 AND SER-72; Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans.
Lee S.-G.; Joo Y.; Kim B.; Chung S.; Kim H.-L.; Lee I.; Choi B.; Kim C.; Song K.;
Hum. Genet. 116:319-328(2005)
Cited for: CHARACTERIZATION OF VARIANT SER-72; INVOLVEMENT IN SCZD; CATALYTIC ACTIVITY;
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.