UniProtKB/Swiss-Prot P04180: Variant p.Ala165Thr

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

165 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 Alanine (A) to Threonine (T) at position 165 (A165T, p.Ala165Thr). 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 hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 rs1369994093 [ dbSNP | Ensembl ]

Sequence information Variant position:

165 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:

LHTLVQNLVNNGYVRDETVR A APYDWRLEPGQQEEYYRKLA 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                         LHTLVQNLVNNGYVRDETVRAAPYDWRLEPGQQEEYYRKLA

Mouse                         LHTLVQNLVNNGYVRDETVRAAPYDWRLAPHQQDEYYKKLA

Rat                           LHTLVQNLVNNGYVRDETVRAAPYDWRLAPRQQDEYYQKLA

Rabbit                        MHTLVQNLVNNGYVRDETVRAAPYDWRLEPSQQEEYYGKLA

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
Site	173 – 173	Determinant for substrate specificity
Mutagenesis	173 – 173	E -> A. Increased activity towards PAPC. Increased PAPC/POPC activity ratio.
Mutagenesis	173 – 173	E -> D. Little change in enzyme specific activity nor in PAPC/POPC activity ratio.
Mutagenesis	173 – 173	E -> K. Decreased enzyme specific activity. Increased PAPC/POPC activity ratio.
Mutagenesis	173 – 173	E -> L. Increased activity towards PAPC. Increased PAPC/POPC activity ratio.
Mutagenesis	173 – 173	E -> Q. Decreased enzyme specific activity. Increased PAPC/POPC activity ratio.
Beta strand	163 – 165

Literature citations
The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families.
Calabresi L.; Pisciotta L.; Costantin A.; Frigerio I.; Eberini I.; Alessandrini P.; Arca M.; Bon G.B.; Boscutti G.; Busnach G.; Frasca G.; Gesualdo L.; Gigante M.; Lupattelli G.; Montali A.; Pizzolitto S.; Rabbone I.; Rolleri M.; Ruotolo G.; Sampietro T.; Sessa A.; Vaudo G.; Cantafora A.; Veglia F.; Calandra S.; Bertolini S.; Franceschini G.;
Arterioscler. Thromb. Vasc. Biol. 25:1972-1978(2005)
Cited for: VARIANTS FED GLU-70 AND ALA-298; VARIANTS LCATD CYS-164; TRP-171; ASN-205; ASN-242; HIS-268; ILE-298 AND MET-333; VARIANTS PRO-115; THR-165 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.