Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95477: Variant p.Arg219Lys

Phospholipid-transporting ATPase ABCA1
Gene: ABCA1
Feedback?
Variant information Variant position: help 219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Lysine (K) at position 219 (R219K, p.Arg219Lys). 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: help Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Polymorphism: help Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIM:600046]. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 219 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2261 The length of the canonical sequence.
Location on the sequence: help KSEEMIQLGDQEVSELCGLP R EKLAAAERVLRSNMDILKPI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         KSEEMIQLGDQEVSELCGLPREKLAAAERVLRSNMDILKPI--

Mouse                         KLEEIIQLGDAEVSALCGLPRKKLDAAERVLRYNMDILKPV

Slime mold                    ---------------------------------GIEILSPI

Sequence annotation in neighborhood: help 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 1 – 2261 Phospholipid-transporting ATPase ABCA1
Topological domain 43 – 639 Extracellular
Disulfide bond 75 – 309
Helix 216 – 226



Literature citations
Common and rare ABCA1 variants affecting plasma HDL cholesterol.
Wang J.; Burnett J.R.; Near S.; Young K.; Zinman B.; Hanley A.J.G.; Connelly P.W.; Harris S.B.; Hegele R.A.;
Arterioscler. Thromb. Vasc. Biol. 20:1983-1989(2000)
Cited for: VARIANT TGD ASP-1046; VARIANTS LYS-219; CYS-230; ILE-825; MET-883 AND ARG-1587; INVOLVEMENT IN HDLCQ13; Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease.
Brousseau M.E.; Bodzioch M.; Schaefer E.J.; Goldkamp A.L.; Kielar D.; Probst M.; Ordovas J.M.; Aslanidis C.; Lackner K.J.; Bloomfield Rubins H.; Collins D.; Robins S.J.; Wilson P.W.F.; Schmitz G.;
Atherosclerosis 154:607-611(2001)
Cited for: VARIANTS LYS-219; MET-883 AND ASP-1172; Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.
Huang W.; Moriyama K.; Koga T.; Hua H.; Ageta M.; Kawabata S.; Mawatari K.; Imamura T.; Eto T.; Kawamura M.; Teramoto T.; Sasaki J.;
Biochim. Biophys. Acta 1537:71-78(2001)
Cited for: VARIANTS TGD ASN-1289 AND TRP-2081; VARIANT LYS-219; Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease.
Clee S.M.; Zwinderman A.H.; Engert J.C.; Zwarts K.Y.; Molhuizen H.O.F.; Roomp K.; Jukema J.W.; van Wijland M.; van Dam M.; Hudson T.J.; Brooks-Wilson A.; Genest J. Jr.; Kastelein J.J.P.; Hayden M.R.;
Circulation 103:1198-1205(2001)
Cited for: VARIANTS LYS-219; ALA-399; MET-771; PRO-774; ASN-776; ILE-825; MET-883; ASP-1172; ARG-1587 AND CYS-1731; 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: VARIANTS LYS-219; MET-771; ILE-825; MET-883; ASP-1172; PHE-1181 AND ARG-1587; A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia.
Cenarro A.; Artieda M.; Castillo S.; Mozas P.; Reyes G.; Tejedor D.; Alonso R.; Mata P.; Pocovi M.; Civeira F.;
J. Med. Genet. 40:163-168(2003)
Cited for: VARIANT LYS-219; 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.