Variant position: 191 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 489 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 E-GEKKNGKYEKPPFSYNALI MMAIRQSPEKRLTLNGIYEFI
Mouse E-GDKKNGKYEKPPFSYNALI MMAIRQSPEKRLTLNGIYEF
Rat E-GDKKNGKYEKPPFSYNALI MMAIRQSPEKRLTLNGIYEF
Chicken E-GEKKNGKYEKPPFSYNALI MMAIRQSPEKRLTLNGIYEF
Xenopus laevis DGGDKKNGKYEKPPFSYNALI MMAIRQSPEKRLTLNGIYEF
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 – 489 Forkhead box protein G1
181 – 275 Fork-head
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 ARG-191 AND SER-232; VARIANTS RTTCV 217-TYR--HIS-489 DEL AND 396-CYS--HIS-489 DEL;
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.