Sequence information
Variant position: 561 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 872 The length of the canonical sequence.
Location on the sequence:
RAVCVMRFLVSKRKFKESLR
P YDVMDVIEQYSAGHLDMLSR
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 RAVCVMRFLVSKRKFKESLRP YDVMDVIEQYSAGHLDMLSR
Mouse RAVCVMRFLVSKRKFKESLRP YDVMDVIEQYSAGHLDMLSR
Rat RAVCVMRFLVSKRKFKESLRP YDVMDVIEQYSAGHLDMLSR
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 – 872
Potassium voltage-gated channel subfamily KQT member 2
Topological domain
313 – 872
Cytoplasmic
Alternative sequence
394 – 872
Missing. In isoform 6.
Literature citations
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N.; McTague A.; Brittain H.; Papandreou A.; Meyer E.; Ngoh A.; Palmer R.; Morrogh D.; Boustred C.; Hurst J.A.; Jenkins L.; Kurian M.A.; Scott R.H.;
J. Med. Genet. 53:310-317(2016)
Cited for: VARIANTS DEE7 CYS-201; GLN-213 AND SER-561; VARIANTS BFNS1 TRP-213 AND 581-ARG--LYS-872 DEL;
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.