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:
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 LSNITIRIPRGQLTMIVGQV GCGKSSLLLAALGEMQKVSGA
Rat LSNITIRIPRGQLTMIVGQV GCGKSSLLLATLGEMQKVSGA
Slime mold LHDINLTIKKGELVAIVGQV GSGKSSIVSSLVGDLDKTKGT
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
606 – 1004 Cytoplasmic
679 – 929 ABC transporter 1
713 – 720 ATP 1
51 – 1581 Missing. In isoform 3.
Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.
Thomas P.M.; Wohllk N.; Huang E.; Kuhnle U.; Rabl W.; Gagel R.F.; Cote G.J.;
Am. J. Hum. Genet. 59:510-518(1996)
Cited for: VARIANT HHF1 VAL-716;
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