Sequence information
Variant position: 716 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:
LSNITIRIPRGQLTMIVGQV
G CGKSSLLLAALGEMQKVSGA
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 LSNITIRIPRGQLTMIVGQVG CGKSSLLLAALGEMQKVSGA
Rat LSNITIRIPRGQLTMIVGQVG CGKSSLLLATLGEMQKVSGA
Slime mold LHDINLTIKKGELVAIVGQVG SGKSSIVSSLVGDLDKTKGT
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 – 1581
ATP-binding cassette sub-family C member 8
Topological domain
606 – 1004
Cytoplasmic
Domain
679 – 929
ABC transporter 1
Nucleotide binding
713 – 720
ATP 1
Alternative sequence
51 – 1581
Missing. In isoform 3.
Literature citations
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;
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.