UniProtKB/SwissProt variant VAR

Catechol O-methyltransferase
Gene: COMT
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Variant information Variant position:

72
Type of variant:

LB/B
Residue change:

From Alanine (A) to Serine (S) at position 72 (A72S, p.Ala72Ser).
Physico-chemical properties:

Change from small size and hydrophobic (A) to small size and polar (S)
BLOSUM score:

1
Polymorphism:

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:

Correlated with reduced enzyme activity; associated with increased risk for schizophrenia.
Other resources:

Variant rs6267 [ dbSNP | Ensembl ]

Sequence information Variant position:

72
Protein sequence length:

271
Location on the sequence:

GDTKEQRILNHVLQHAEPGN A QSVLEAIDTYCEQKEWAMNV
Residue conservation:

Human                         GDTKEQRILNHVLQHAEPGNAQSVLEAIDTYCEQKEWAMNV

Mouse                         GGTKEQRILRHVQQHAKPGDPQSVLEAIDTYCSEKEWAMNV

Rat                           GDTKEQRILRYVQQNAKPGDPQSVLEAIDTYCTQKEWAMNV

Bovine                        GSSKEQRILQHVLQHAVAGDPQSVVAAIDSYSLEKEWAMHV

Horse                         GDSKEQRILRHVLQHAVAGDPQSVLETIDAYCSQKEWAMNV

Sequence annotation in neighborhood:

Type	Positions	Description
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;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21964: Variant p.Ala72Ser