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UniProtKB/Swiss-Prot P78363: Variant p.Ala1794Pro

Retinal-specific phospholipid-transporting ATPase ABCA4
Gene: ABCA4
Variant information

Variant position:  1794
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 Alanine (A) to Proline (P) at position 1794 (A1794P, p.Ala1794Pro).
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 small size and hydrophobic (A) to medium size and hydrophobic (P)
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 STGD1; unknown pathological significance; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases solubility below 50%; significantly reduces N-Ret-PE binding in the absence of ATP.
Any additional useful information about the variant.



Sequence information

Variant position:  1794
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2273
The length of the canonical sequence.

Location on the sequence:   VIPMMYPASFLFDVPSTAYV  A LSCANLFIGINSSAITFILE
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                         VIPMMYPASFLFDVPSTAYVALSCANLFIGINSSAITFILE

Mouse                         VIPMMYPASFLFEVPSTAYVALSCANLFIGINSSAITFVLE

Slime mold                    IIPLSYLMSFKFSSHGKAVGAIFAIHFGVGLIFTVISFILR

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 1 – 2273 Retinal-specific phospholipid-transporting ATPase ABCA4
Transmembrane 1793 – 1813 Helical
Helix 1791 – 1815


Literature citations

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.
Garces F.; Jiang K.; Molday L.L.; Stoehr H.; Weber B.H.; Lyons C.J.; Maberley D.; Molday R.S.;
Invest. Ophthalmol. Vis. Sci. 59:2305-2315(2018)
Cited for: VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077; CHARACTERIZATION OF VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077; MUTAGENESIS OF ALA-1357; FUNCTION; SUBCELLULAR LOCATION;

Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.
Garces F.A.; Scortecci J.F.; Molday R.S.;
Int. J. Mol. Sci. 22:0-0(2020)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS STGD1 CYS-653; HIS-653; ARG-661; SER-686; VAL-690; MET-716; TYR-764; ARG-765; ASN-765; ASP-767; PRO-797; GLU-818; ARG-821; THR-824; ARG-840; ALA-849; ASP-851; THR-854; LEU-1380; LYS-1399; ASN-1696; GLU-1703; LYS-1703; LEU-1705; VAL-1773; ASP-1794; PRO-1794; ASP-1805; ASN-1838; ASP-1838; TYR-1838; TRP-1843; ILE-1868 AND HIS-1898; CHARACTERIZATION OF VARIANTS HIS-846; GLU-1773 AND CYS-1898; MUTAGENESIS OF HIS-1838;

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.