Sequence information
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:
LPLGVAFYFIQKYFRVASKD
L QELDDSTQLPLLCHFSETAE
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 LPLGVAFYFIQKYFRVASKDL QELDDSTQLPLLCHFSETAE
Mouse APLGVAFYFIQKYFRVASKDL QELDDSTQLPLLCHFSETAE
Rat APLGVAFYFIQKYFRVASKDL QELDDSTQLPLLCHFSETAE
Rabbit VPLGVAFYFIQKYFRVASKDL QELDDSTQLPLLCHFSETAE
Slime mold LILSMFYYQIFNIYRVSVREL NRCKSISQSPIISFLSECCN
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 – 1549
ATP-binding cassette sub-family C member 9
Topological domain
1149 – 1245
Extracellular
Domain
994 – 1274
ABC transmembrane type-1 2
Literature citations
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;
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.