Variant position: 330 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 390 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 LWGQRFVPIVAEEDGRYSVD YSKFGNTIKVPTPLCTARQLD
Mouse LWGQRFVPIVAEEDGRYSVD YSKFGNTIKVPTPLCTARQLD
Rat LWGQRFVPIVAEEDGRYSVD YSKFGNTVKVPTPLCTARQLD
Rabbit LWGQRFVPIVAEEDGRYSVD YSKFGNTVKVPTPLCTARQLD
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 – 390 ATP-sensitive inward rectifier potassium channel 11
167 – 390 Cytoplasmic
341 – 341 Phosphothreonine; by MAPK1
Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
Sagen J.V.; Raeder H.; Hathout E.; Shehadeh N.; Gudmundsson K.; Baevre H.; Abuelo D.; Phornphutkul C.; Molnes J.; Bell G.I.; Gloyn A.L.; Hattersley A.T.; Molven A.; Soevik O.; Njoelstad P.R.;
Cited for: VARIANTS PNDM2 VAL-35; MET-59; HIS-201; CYS-330 AND ILE-333;
Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
Vaxillaire M.; Populaire C.; Busiah K.; Cave H.; Gloyn A.L.; Hattersley A.T.; Czernichow P.; Froguel P.; Polak M.;
Cited for: VARIANTS PNDM2 LEU-35; MET-59; CYS-201; HIS-201; LYS-322 AND CYS-330;
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