UniProtKB/Swiss-Prot P04180: Variant p.Ser232Thr

Phosphatidylcholine-sterol acyltransferase
Gene: LCAT
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Variant information Variant position:

232 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 Threonine (T) at position 232 (S232T, p.Ser232Thr). 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 medium size and polar (T) 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.

Variant rs4986970 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LYFLLRQPQAWKDRFIDGFI S LGAPWGGSIKPMLVLASGDN 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                         LYFLLRQPQAWKDRFIDGFISLGAPWGGSIKPMLVLASGDN

Mouse                         LHFLLRQPQSWKDHFIDGFISLGAPWGGSIKAMRILASGDN

Rat                           LHFLLRQPQSWKDHFIDGFISLGAPWGGSIKPMRILASGDN

Rabbit                        LYFLLRQPQSWKDRFIDGFISLGAPWGGSIKPMLVLASGDN

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	25 – 440	Phosphatidylcholine-sterol acyltransferase
Beta strand	227 – 234

Literature citations
A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100.
Nanjee M.N.; Stocks J.; Cooke C.J.; Molhuizen H.O.; Marcovina S.; Crook D.; Kastelein J.P.; Miller N.E.;
Atherosclerosis 170:105-113(2003)
Cited for: VARIANTS LCATD MET-345 AND VAL-406; VARIANT THR-232; Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
Morabia A.; Cayanis E.; Costanza M.C.; Ross B.M.; Flaherty M.S.; Alvin G.B.; Das K.; Gilliam T.C.;
Hum. Mol. Genet. 12:2733-2743(2003)
Cited for: VARIANT THR-232; LCAT deficiency: molecular and phenotypic characterization of an Italian family.
Gigante M.; Ranieri E.; Cerullo G.; Calabresi L.; Iolascon A.; Assmann G.; Morrone L.; Pisciotta L.; Schena F.P.; Gesualdo L.;
J. Nephrol. 19:375-381(2006)
Cited for: VARIANTS THR-232 AND ARG-396;

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.