Variant position: 241 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 410 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 VQTGYCVKTFTGHREWVRMV RPNQDGTLIASCSNDQTVRVW
Chimpanzee VQTGYCVKTFTGHREWVRMV RPNQDGTLIASCSNDQTVRVW
Mouse VQTGYCVKTFTGHREWVRMV RPNQDGTLIASCSNDQTVRVW
Rat VQTGYCVKTFTGHREWVRMV RPNQDGTLIASCSNDQTVRVW
Pig VQTGYCVKTFTGHREWVRMV RPNQDGTLIASCSNDQTVRVW
Bovine VQTGYCVKTFTGHREWVRMV RPNQDGTLIASCSNDQTVRVW
Cat VQTGYCVKTFTGHREWVRMV RPNQDGTLIASCSNDQTVRVW
Chicken VQTGYCVKTFTGHREWVRMV RPNQDGTLIASCSNDQTVRVW
Xenopus laevis VQTGYCVKTFTGHREWVRMV RPNQDGTLIASCSNDQTVRVW
Xenopus tropicalis VQTGYCVKTFTGHREWVRMV RPNQDGTLIASCSNDQTVRVW
Caenorhabditis elegans ISTGYCVYTFRGHNDWVRMI RISNDGTLFASASLDQTVTVW
Drosophila VATGYCVKTYTGHREWVRMV RVHIEGSIFATCSNDQTIRVW
Slime mold AATGYCIKTLVGHEDWVRKI TVSEDGSCIASCSNDQTIKTW
Baker's yeast FHNGWSLKTFQPHSQWVRSI DVL--GDYIISGSHDTTLRLT
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 – 410 Platelet-activating factor acetylhydrolase IB subunit alpha
232 – 271 WD 4
83 – 410 Interaction with dynein and dynactin
237 – 237 V -> I. In isoform 2.
238 – 410 Missing. In isoform 2.
Mosaic mutations of the LIS1 gene cause subcortical band heterotopia.
Sicca F.; Kelemen A.; Genton P.; Das S.; Mei D.; Moro F.; Dobyns W.B.; Guerrini R.;
Cited for: VARIANT SBH PRO-241;
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.