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UniProtKB/Swiss-Prot P02647: Variant p.Leu198Ser

Apolipoprotein A-I
Gene: APOA1
Variant information

Variant position:  198
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Leucine (L) to Serine (S) at position 198 (L198S, p.Leu198Ser).
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 medium size and hydrophobic (L) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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 AMYL8; plasma level of HDL and apoA-I protein were significantly lower in the patient.
Any additional useful information about the variant.



Sequence information

Variant position:  198
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:   AHVDALRTHLAPYSDELRQR  L AARLEALKENGGARLAEYHA
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                         AHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHA

Gorilla                       AHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHA

                              THVDALRAQLAPYSDDLRERLAARLEALKEGGGASLAEYHA

Rhesus macaque                AHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHA

Chimpanzee                    AHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHA

Mouse                         THVDSLRTQLAPHSEQMRESLAQRLAELKSN--PTLNEYHT

Rat                           VNADALRAKFGLYSDQMRENLAQRLTEIKNH--PTLIEYHT

Pig                           AHVEALRQHVAPYSDDLRQRMAARFEALKEGGGS-LAEYQA

Bovine                        AHVETLRQQLAPYSDDLRQRLTARLEALKEGGGS-LAEYHA

Rabbit                        THVDTLRTKLAPYSNELQQRLAARLESIKEGGGASLAEYQA

Chicken                       GHVEELRKNLAPYSDELRQKLSQKLEEIREKGIPQASEYQA

Zebrafish                     SNIEETKSKVVPMVEAVRTKLTERLEDLRTMAAPYAEEYKE

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.

TypePositionsDescription
Chain 19 – 267 Proapolipoprotein A-I
Chain 25 – 267 Apolipoprotein A-I
Chain 25 – 266 Truncated apolipoprotein A-I
Repeat 189 – 210 7
Region 68 – 267 10 X approximate tandem repeats
Helix 166 – 203


Literature citations

The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide.
Obici L.; Bellotti V.; Mangione P.; Stoppini M.; Arbustini E.; Verga L.; Zorzoli I.; Anesi E.; Zanotti G.; Campana C.; Vigano M.; Merlini G.;
Am. J. Pathol. 155:695-702(1999)
Cited for: VARIANT AMYL8 SER-198; CHARACTERIZATION OF VARIANT AMYL8 SER-198;

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.