Sequence information
Variant position: 518 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 911 The length of the canonical sequence.
Location on the sequence:
ILLVVLVVAFEGSFLVRFIS
R YTQEIFSFLISLIFIYETFS
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 ILLVVLVVAFEGSFLVRFISR YTQEIFSFLISLIFIYETFS
Mouse ILLVMLVVAFEGSFLVQYISR YTQEIFSFLISLIFIYETFS
Rat ILLVVLVVAFEGSFLVQYISR YTQEIFSFLISLIFIYETFS
Chicken ILLVLLVVACEGTVLVRYLSR YTQEIFSFLISLIFIYETFA
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 – 911
Band 3 anion transport protein
Topological domain
507 – 518
Cytoplasmic
Helix
518 – 546
Literature citations
Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
Eber S.W.; Gonzalez J.M.; Lux M.L.; Scarpa A.L.; Tse W.T.; Dornwell M.; Herbers J.; Kugler W.; Oezcan R.; Pekrun A.; Gallagher P.G.; Schroeter W.; Forget B.G.; Lux S.E.;
Nat. Genet. 13:214-218(1996)
Cited for: VARIANTS SPH4 CYS-518 AND MET-663 DEL; VARIANT LYS-40;
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.