Sequence information
Variant position: 971 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:
ITFYENQITAFLGHNGAGKT
T TLSILTGLLPPTSGTVLVGG
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 ITFYENQITAFLGHNGAGKTT TLSILTGLLPPTSGTVLVGG
Mouse ITFYENQITAFLGHNGAGKTT TLSILTGLLPPTSGTVLIGG
Slime mold IDMYKNRIHSFLGPNGSGKST TLSMLTGMIEPTSGDALING
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
857 – 1376
Cytoplasmic
Domain
929 – 1160
ABC transporter 1
Mutagenesis
966 – 966
G -> D. Abolishes basal and retinal-stimulated ATP hydrolysis.
Mutagenesis
969 – 969
K -> M. Abolishes basal and retinal-stimulated ATP hydrolysis.
Mutagenesis
969 – 969
K -> M. Inhibits ATPase activity; when associated with M-1978. Decreases translocase activity; when associated with M-1978. Does not affect protein subcellular localization in endoplasmic reticulum; when associated with M-1978.
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.