UniProtKB/Swiss-Prot O95477: Variant p.Pro1065Ser

Phospholipid-transporting ATPase ABCA1
Gene: ABCA1
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Variant information Variant position:

1065 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 Proline (P) to Serine (S) at position 1065 (P1065S, p.Pro1065Ser). 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 (P) 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
Polymorphism:

Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIM:600046]. Additional information on the polymorphism described.

Sequence information Variant position:

1065 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2261 The length of the canonical sequence.
Location on the sequence:

LAFVGGSKVVILDEPTAGVD P YSRRGIWELLLKYRQGRTII 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                         LAFVGGSKVVILDEPTAGVDPYSRRGIWELLLKYRQGRTII

Mouse                         LAFVGGSKVVILDEPTAGVDPYSRRGIWELLLKYRQGRTII

Slime mold                    ---IGGTVL----------------------------KTVI

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	1 – 2261	Phospholipid-transporting ATPase ABCA1
Domain	899 – 1131	ABC transporter 1
Helix	1065 – 1077

Literature citations
Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.
Frikke-Schmidt R.; Nordestgaard B.G.; Jensen G.B.; Tybjaerg-Hansen A.;
J. Clin. Invest. 114:1343-1353(2004)
Cited for: VARIANT TGD HIS-1800; VARIANTS LYS-219; CYS-364; MET-771; PRO-774; ASN-776; ILE-825; MET-883; SER-1065; ASP-1172; VAL-1216 AND ARG-1587; INVOLVEMENT IN HDLCQ13;

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.