Variant position: 277 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 TVRVWVVATKECKAELREHE HVVECISW-------APESSYSSISEAT
Chimpanzee TVRVWVVATKECKAELREHE HVVECISW-------APESSY
Mouse TVRVWVVATKECKAELREHE HVVECISW-------APESSY
Rat TVRVWVVATKECKAELREHE HVVECISW-------APESSY
Pig TVRVWVVATKECKAELREHE HVVECISW-------APESSY
Bovine TVRVWVVATKECKAELREHE HVVECISW-------APESSY
Cat TVRVWVVATKECKAELREHE HVVECISW-------APESSY
Chicken TVRVWVVATKECKAELREHE HVVECISW-------APESSY
Xenopus laevis TVRVWVVATKECKAELREHE HVVECISW-------APESSY
Xenopus tropicalis TVRVWVVATKECKAELREHE HVVECISW-------APESSY
Caenorhabditis elegans TVTVWSFATKSAKLVLRDHE HAVECVEW-------APDTAY
Drosophila TIRVWLTNSKDCKVELRDHE HTVECIAW-------APEAAA
Slime mold TIKTWNIVKGECLATYREHS HVVECLAFSTANIIDIPGSLL
Baker's yeast TLRLTHWPSGNGLSVGTGHE FPIEKVKF-IHFIEDSPEIRF
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
274 – 333 WD 5
83 – 410 Interaction with dynein and dynactin
238 – 410 Missing. In isoform 2.
Mutation screening in a cohort of patients with lissencephaly and subcortical band heterotopia.
Torres F.R.; Montenegro M.A.; Marques-de-Faria A.P.; Guerreiro M.M.; Cendes F.; Lopes-Cendes I.;
Cited for: VARIANT LIS1 PRO-277;
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.