Variant position: 117 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 360 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 TICVKYITSFTAAFSFSLET QLTIGYGTMFPSGDCPSAIAL
Mouse TICVKHITSFTAAFSFSLET QLTIGYGTMFPSGDCPSAIAL
Rat TICVKHITSFTAAFSFSLET QLTIGYGTMFPSGDCPSAIAL
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 – 360 Inward rectifier potassium channel 13
106 – 117 Helical; Pore-forming; Name=H5
95 – 360 Missing. In isoform 2.
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
Sergouniotis P.I.; Davidson A.E.; Mackay D.S.; Li Z.; Yang X.; Plagnol V.; Moore A.T.; Webster A.R.;
Am. J. Hum. Genet. 89:183-190(2011)
Cited for: VARIANTS LCA16 ARG-117 AND PRO-241; VARIANTS GLN-162 AND ALA-276;
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