Variant position: 109 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 GAPAADDDKGPQQLLLPPPP PPPPAAALDGAKADGLGGKGE
Mouse GAPAADDDKGPQPLLL---- --PPSTALDGAKADALGAKGE
Rat GAPAADDDKGPQPLLL---- --PPSAALDGAKADALGAKGE
Chicken AAAAEEEDEEKAPLLL---- PPPAAGALEAAKAEALAGKGE
Xenopus laevis HRPLQEEDELDKSLLEVKTE SLPP-------------GKGD
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
58 – 112 Pro-rich
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.
Guen T.L.; Fichou Y.; Nectoux J.; Bahi-Buisson N.; Rivier F.; Boddaert N.; Diebold B.; Heron D.; Chelly J.; Bienvenu T.;
Hum. Mutat. 32:E2026-E2035(2011)
Cited for: SUBCELLULAR LOCATION; VARIANT RTTCV CYS-244; VARIANT LEU-109; CHARACTERIZATION OF VARIANT RTTCV CYS-244;
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