Sequence information
Variant position: 661 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 800 The length of the canonical sequence.
Location on the sequence:
NQCQTQLKSLYAENLPGNVG
E FTAYRILYYIFTKNSGDITT
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 NQCQTQLKSLYAENLPGNVGE FTAYRILYYIFTKNSGDITT
Mouse NQCQTQLKSLYAENLAGNVGE FTAYRILYYIFTKNSGDITT
Xenopus laevis NQCQAQLKSLYAENLAGNVGE FTAYRILYYIFTKNSGDLTT
Zebrafish NQCQTQLKALYKDCPSDNVGE FTAYRLIYYIFTKNSGDLTT
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
2 – 800
Leukocyte receptor cluster member 8
Domain
636 – 800
PCI
Alternative sequence
38 – 783
Missing. In isoform 3.
Literature citations
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S.; Alzahrani F.; Al-Owain M.; Al Muhaizea M.A.; Kayyali H.R.; AlHashem A.; Rahbeeni Z.; Al-Otaibi M.; Alzaidan H.I.; Balobaid A.; El Khashab H.Y.; Bubshait D.K.; Faden M.; Yamani S.A.; Dabbagh O.; Al-Mureikhi M.; Jasser A.A.; Alsaif H.S.; Alluhaydan I.; Seidahmed M.Z.; Alabbasi B.H.; Almogarri I.; Kurdi W.; Akleh H.; Qari A.; Al Tala S.M.; Alhomaidi S.; Kentab A.Y.; Salih M.A.; Chedrawi A.; Alameer S.; Tabarki B.; Shamseldin H.E.; Patel N.; Ibrahim N.; Abdulwahab F.; Samira M.; Goljan E.; Abouelhoda M.; Meyer B.F.; Hashem M.; Shaheen R.; AlShahwan S.; Alfadhel M.; Ben-Omran T.; Al-Qattan M.M.; Monies D.; Alkuraya F.S.;
Genet. Med. 21:736-742(2019)
Cited for: VARIANT LYS-661;
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.