Variant position: 234 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 567 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 EVEKIGVGEFGTVYKCIKRL DGCVYAIKRSMKTFTELSNEN
Mouse EIEKIGVGEFGTVYKCIKRL DGCIYAIKRSAKSFSGLSNE-
Pig EVEKIGVGEFGTVYKCIKRL DGCVYAIKRSTKPVSGLSDEN
Chicken ELERIGVGEFGSVYKCIKRL DGCVYAIKRSKRPLAGSSDEQ
Xenopus tropicalis EIEKIGAGEFGSVFKCVKRL DGCFYAIKRSKKPLAGSTDEQ
Zebrafish ELACIGVGEFGSVYRCVKRL DGCMYAIKRSRRPIAGSANEQ
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.
Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility.
Sang Q.; Li B.; Kuang Y.; Wang X.; Zhang Z.; Chen B.; Wu L.; Lyu Q.; Fu Y.; Yan Z.; Mao X.; Xu Y.; Mu J.; Li Q.; Jin L.; He L.; Wang L.;
Am. J. Hum. Genet. 102:649-657(2018)
Cited for: INVOLVEMENT IN OOMD5; VARIANT OOMD5 HIS-234; CHARACTERIZATION OF VARIANT OOMD5 HIS-234; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; PHOSPHORYLATION;
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.