Sequence information
Variant position: 846 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:
NSPTEGDEFSFLLSMQMMLL
D AAVYGLLAWYLDQVFPGDYG
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 NSPTEGDEFSFLLSMQMMLLD AAVYGLLAWYLDQVFPGDYG
Mouse KSPLEGDEFSFLLSMKMMLLD AALYGLLAWYLDQVFPGDYG
Slime mold INVNMVNEYEII---GMLVFD IFLYILILWYLDNVITGEYG
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
Transmembrane
836 – 856
Helical
Literature citations
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Allikmets R.; Singh N.; Sun H.; Shroyer N.F.; Hutchinson A.; Chidambaram A.; Gerrard B.; Baird L.; Stauffer D.; Peiffer A.; Rattner A.; Smallwood P.M.; Li Y.; Anderson K.L.; Lewis R.A.; Nathans J.; Leppert M.; Dean M.; Lupski J.R.;
Nat. Genet. 15:236-246(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS STGD1; VARIANTS HIS-846; GLN-943 AND ASP-1817;
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.