Sequence information
Variant position: 241 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:
SVDFHLDGISSDECPFFIFP
L TYYHSITPSSPLATLLQHEN
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 SVDFHLDGISSDECPFFIFPL TYYHSITPSSPLATLLQHEN
Mouse SVDFHLDGISSEECPFFIFPL TYYHTISPSSPLATLLQHET
Rat SVDFHLDGISSEECPFFIFPL TYYHTITPSSPLATLLQHET
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 – 360
Inward rectifier potassium channel 13
Topological domain
156 – 360
Cytoplasmic
Alternative sequence
95 – 360
Missing. In isoform 2.
Literature citations
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;
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.