Variant position: 511 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1581 The length of the canonical sequence.
Location on the sequence:
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 YSNERLKQTNEMLRGIKLLK LYAWENIFRTRVETTRRKEMT
Rat YSNERLKQTNEMLRGIKLLK LYAWENIFCSRVEKTRRKEMT
Slime mold LKDRRTKAVNEVLNGIKVIK LYSWEQSFMDHVNEIRNKELD
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
1 – 1581 ATP-binding cassette sub-family C member 8
480 – 541 Cytoplasmic
299 – 602 ABC transmembrane type-1 1
51 – 1581 Missing. In isoform 3.
Monoallelic ABCC8 mutations are a common cause of diazoxide-unresponsive diffuse form of congenital hyperinsulinism.
Saint-Martin C.; Zhou Q.; Martin G.M.; Vaury C.; Leroy G.; Arnoux J.B.; de Lonlay P.; Shyng S.L.; Bellanne-Chantelot C.;
Clin. Genet. 87:448-454(2015)
Cited for: VARIANTS HHF1 MET-511; ASP-716; LYS-824; THR-889; PRO-890; PRO-1352; SER-1378; PHE-1386; TYR-1388; PRO-1389; VAL-1457; ILE-1480; GLU-1505 AND SER-1511; CHARACTERIZATION OF VARIANTS HHF1 MET-511; LYS-824; THR-889; PRO-890; SER-1378; VAL-1457; ILE-1480; GLU-1505 AND SER-1511; FUNCTION; SUBCELLULAR LOCATION;
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.