Variant position: 1160 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1549 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 LPLGVAFYFIQKYFRVASKD LQELDDSTQLPLLCHFSETAE
Mouse APLGVAFYFIQKYFRVASKD LQELDDSTQLPLLCHFSETAE
Rat APLGVAFYFIQKYFRVASKD LQELDDSTQLPLLCHFSETAE
Rabbit VPLGVAFYFIQKYFRVASKD LQELDDSTQLPLLCHFSETAE
Slime mold LILSMFYYQIFNIYRVSVRE LNRCKSISQSPIISFLSECCN
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 – 1549 ATP-binding cassette sub-family C member 9
1149 – 1245 Extracellular
994 – 1274 ABC transmembrane type-1 2
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.
Snijders Blok L.; Kleefstra T.; Venselaar H.; Maas S.; Kroes H.Y.; Lachmeijer A.M.A.; van Gassen K.L.I.; Firth H.V.; Tomkins S.; Bodek S.; Ounap K.; Wojcik M.H.; Cunniff C.; Bergstrom K.; Powis Z.; Tang S.; Shinde D.N.; Au C.; Iglesias A.D.; Izumi K.; Leonard J.; Abou Tayoun A.; Baker S.W.; Tartaglia M.; Niceta M.; Dentici M.L.; Okamoto N.; Miyake N.; Matsumoto N.; Vitobello A.; Faivre L.; Philippe C.; Gilissen C.; Wiel L.; Pfundt R.; Deriziotis P.; Brunner H.G.; Fisher S.E.;
Am. J. Hum. Genet. 105:403-412(2019)
Cited for: VARIANT ARG-1160;
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