Variant position: 1379 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 PVLKHVNALIAPGQKIGICG RTGSGKSSFSLAFFRMVDTFE
Rat PVLKHVNALISPGQKIGICG RTGSGKSSFSLAFFRMVDMFE
Slime mold PVLRGINCTIEPKTKVGIVG RTGAGKSSLTQALFRLVEPLR
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
1298 – 1581 Cytoplasmic
1344 – 1578 ABC transporter 2
1378 – 1385 ATP 2
51 – 1581 Missing. In isoform 3.
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
Babenko A.P.; Polak M.; Cave H.; Busiah K.; Czernichow P.; Scharfmann R.; Bryan J.; Aguilar-Bryan L.; Vaxillaire M.; Froguel P.;
N. Engl. J. Med. 355:456-466(2006)
Cited for: VARIANTS PNDM3 ARG-213 AND VAL-1424; VARIANTS TNDM2 ARG-435; VAL-582; TYR-1023; GLN-1182 AND CYS-1379; CHARACTERIZATION OF VARIANT PNDM3 VAL-1424; CHARACTERIZATION OF VARIANT TNDM2 TYR-1023;
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.