Variant position: 207 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 527 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 CKLDIRTLTSEGQR-KSPLQS WFAELQSYTQLNFRPIEDAKC
Chimpanzee CKLDIRTLMSEGQR-KSPLQS WFAELQSYTQLNFRPIEDAK
Mouse CKLDSHALVSEGQR-KSPLQS WFAELQGYTQLNFRPIEDAK
Rat CKLDRHALVSEGQR-KSPLQS WFAELQGYTQLNFRPIEDAK
Bovine CKLDIRSLMSQGQR-KSPLQS WFAELQSYTELNFRPVEDAQ
Chicken CTLDVKAFLAEGQR-KSPLQS WFAELQTFTSLNFRPLDDGK
Xenopus laevis CDLDKQALLSQGAW-KSPLQS WFAELQSYSSFKFKPIEDAH
Xenopus tropicalis CNLDKQALLSQGAW-KSPLQS WFAELQSYSSLTFKPVEDAH
Drosophila CKLNRTRLSGEMEHIGSALQS WGPELRNFDVLPHPVLESGL
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
18 – 527 EGF domain-specific O-linked N-acetylglucosamine transferase
208 – 208 F -> C. In isoform 2.
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.
Shaheen R.; Aglan M.; Keppler-Noreuil K.; Faqeih E.; Ansari S.; Horton K.; Ashour A.; Zaki M.S.; Al-Zahrani F.; Cueto-Gonzalez A.M.; Abdel-Salam G.; Temtamy S.; Alkuraya F.S.;
Am. J. Hum. Genet. 92:598-604(2013)
Cited for: VARIANTS AOS4 SER-207 AND GLN-377;
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