Variant position: 1704 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:
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 AKHLQFISGVKPVIYWLSNF VWDMCNYVVPATLVIIIFICF
Mouse AKHLQFISGVKPVIYWLSNF VWDMCNYVVPATLVIIIFICF
Slime mold VRH----------------- ---------------------
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
1 – 2261 Phospholipid-transporting ATPase ABCA1
1703 – 1723 Helical
Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency.
Albrecht C.; Baynes K.; Sardini A.; Schepelmann S.; Eden E.R.; Davies S.W.; Higgins C.F.; Feher M.D.; Owen J.S.; Soutar A.K.;
Biochim. Biophys. Acta 1689:47-57(2004)
Cited for: VARIANTS TGD PHE-1379 AND ASP-1704; CHARACTERIZATION OF VARIANTS TGD PHE-1379 AND ASP-1704;
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.