UniProtKB/Swiss-Prot P02647: Variant p.Arg173Ser

Apolipoprotein A-I
Gene: APOA1
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Variant information Variant position:

173 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Arginine (R) to Serine (S) at position 173 (R173S, p.Arg173Ser). 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 large size and basic (R) to small size and polar (S) 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
Variant description:

In Boston; correlated with decreased levels of HDL cholesterol; correlated with decreased serum cellular cholesterol efflux; correlated with decreased lecithin-cholesterol acyltransferase (LCAT) activity. Any additional useful information about the variant.

Sequence information Variant position:

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

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

GARQKLHELQEKLSPLGEEM R DRARAHVDALRTHLAPYSDE 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                         GARQKLHELQEKLSPLGEEMRDRARAHVDALRTHLAPYSDE

Gorilla                       GARQKLHELQEKLSPLGEEMRDRARAHVDALRTHLAPYSDE

                              GARQKLQELQEKLSPLAEELRDRARTHVDALRAQLAPYSDD

Rhesus macaque                GTRQKLHELHEKLSPLGEEVRDRARAHVDALRTHLAPYSDE

Chimpanzee                    GARQKLHELQEKLSPLGEEMRDRARAHVDALRTHLAPYSDE

Mouse                         SARQKLQELQGRLSPVAEEFRDRMRTHVDSLRTQLAPHSEQ

Rat                           NAK----EMQRHLKVVAEEFRDRMRVNADALRAKFGLYSDQ

Pig                           GARQKVQELQEKLSPLAEELRDRLRAHVEALRQHVAPYSDD

Bovine                        GARQKVQELQDKLSPLAQELRDRARAHVETLRQQLAPYSDD

Rabbit                        SARQKLTELQEKLSPLAEELRDSARTHVDTLRTKLAPYSNE

Chicken                       LTKQKVELMQAKLTPVAEEARDRLRGHVEELRKNLAPYSDE

Zebrafish                     LNRQNAEQLRAKLEPLMDDIRKAFESNIEETKSKVVPMVEA

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	19 – 267	Proapolipoprotein A-I
Chain	25 – 267	Apolipoprotein A-I
Chain	25 – 266	Truncated apolipoprotein A-I
Repeat	167 – 188	6
Region	68 – 267	10 X approximate tandem repeats
Helix	166 – 203

Literature citations
Case report: A novel apolipoprotein A-I missense mutation apoA-I (Arg149Ser)Boston associated with decreased lecithin-cholesterol acyltransferase activation and cellular cholesterol efflux.
Anthanont P.; Asztalos B.F.; Polisecki E.; Zachariah B.; Schaefer E.J.;
J. Clin. Lipidol. 9:390-395(2015)
Cited for: VARIANT BOSTON SER-173;

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.