Sequence information
Variant position: 1040 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1410 The length of the canonical sequence.
Location on the sequence:
GKYLSFEAEEKLAEWVLTQR
E QQLPVNEETLFQKATKIGRS
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 GKYLSFEAEEKLAEWVLTQRE QQLPVNEETLFQKATKIGRS
Mouse GKYLSFEAEEKLAEWVLIQRE QQLPVNEETLFQKATKIGRS
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 – 1410
Pogo transposable element with ZNF domain
Domain
1015 – 1085
HTH CENPB-type
Alternative sequence
364 – 1410
Missing. In isoform 4.
Literature citations
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
Fukai R.; Hiraki Y.; Yofune H.; Tsurusaki Y.; Nakashima M.; Saitsu H.; Tanaka F.; Miyake N.; Matsumoto N.;
J. Hum. Genet. 60:277-279(2015)
Cited for: VARIANT LYS-1040; INVOLVEMENT IN AUTISM;
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.