Variant position: 198 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 432 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 HGPPGTGKTSLCKALAQKLT IR---------LSSRYRYGQLIEINSHSLF
Mouse HGPPGTGKTSLCKALAQKLT IR---------LSSRYRYGQL
Rat HGPPGTGKTSLCKALAQKLT IR---------LSSRYRYGQL
Pig HGPPGTGKTSLCKALAQKLT IR---------LSSRYRYGQL
Chicken HGPPGTGKTSLCKALAQKLT IR---------LSYRYRYGQL
Xenopus tropicalis HGPPGTGKTSLCKALAQKLT IR---------LSYRYRYGQL
Zebrafish HGPPGTGKTSLCKGLAQKLS IR---------LSDRYAHSQF
Caenorhabditis elegans TGPPGTGKTSLCKGLAQHLS IR---------MNDKYSKSVM
Baker's yeast HGPPGTGKTTLCKALCQKLS VRREFSDGSDTIDTNYK-GII
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 – 432 Pachytene checkpoint protein 2 homolog
171 – 406 Missing. In isoform 2.
185 – 199
Bi-allelic missense pathogenic variants in TRIP13 cause female infertility characterized by oocyte maturation arrest.
Zhang Z.; Li B.; Fu J.; Li R.; Diao F.; Li C.; Chen B.; Du J.; Zhou Z.; Mu J.; Yan Z.; Wu L.; Liu S.; Wang W.; Zhao L.; Dong J.; He L.; Liang X.; Kuang Y.; Sun X.; Sang Q.; Wang L.;
Am. J. Hum. Genet. 107:15-23(2020)
Cited for: VARIANTS OOMD9 ARG-26; GLN-173; VAL-198; MET-247 AND LYS-303; CHARACTERIZATION OF VARIANT OOMD9 ARG-26; INVOLVEMENT IN OOMD9;
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.