Sequence information
Variant position: 1652 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:
NVAHNAILRASLPKDRSPEE
Y GITVISQPLNLTKEQLSEIT
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 NVAHNAILRASLPKDRSPEEY GITVISQPLNLTKEQLSEIT
Mouse NVAHNAILRASLPRDRDPEEY GITVISQPLNLTKEQLSDIT
Slime mold NFVDSEILRSVTGKRIQTTSL PFEHIQSPLEVASLDVNFVA
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 – 2273
Retinal-specific phospholipid-transporting ATPase ABCA4
Topological domain
1398 – 1727
Extracellular
Glycosylation
1662 – 1662
N-linked (GlcNAc...) asparagine
Literature citations
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
Fishman G.A.; Stone E.M.; Grover S.; Derlacki D.J.; Haines H.L.; Hockey R.R.;
Arch. Ophthalmol. 117:504-510(1999)
Cited for: VARIANTS STGD1 VAL-60; ARG-206; ASN-300; PRO-541; ALA-849; PRO-974; VAL-1038; CYS-1108; LEU-1408; ARG-1488; ASP-1652; PRO-1729; GLU-1961; TRP-2038; TRP-2077; HIS-2107; ARG-2128 AND TYR-2150;
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.