Variant position: 569 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1663 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 ADQSDLAQPGAVQHGLVQPG VDQRGLAQPRADHQRGLVPPG
Mouse -------------------- ---------------------
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 – 1663 Glutamine-rich protein 2
381 – 759 Gln-rich
1 – 1156 Missing. In isoform 3.
Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Shen Y.; Zhang F.; Li F.; Jiang X.; Yang Y.; Li X.; Li W.; Wang X.; Cheng J.; Liu M.; Zhang X.; Yuan G.; Pei X.; Cai K.; Hu F.; Sun J.; Yan L.; Tang L.; Jiang C.; Tu W.; Xu J.; Wu H.; Kong W.; Li S.; Wang K.; Sheng K.; Zhao X.; Yue H.; Yang X.; Xu W.;
Nat. Commun. 10:433-433(2019)
Cited for: FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INTERACTION WITH AKAP3; ODF2 AND TSSK4; INVOLVEMENT IN SPGF35; VARIANTS SPGF35 64-TRP--ARG-1663 DEL; GLU-569; 1013-ARG--ARG-1663 DEL; LYS-1105; GLU-1112; 1127-LEU--ARG-1663 DEL; VAL-1347 AND HIS-1494; CHARACTERIZATION OF VARIANTS SPGF35 64-TRP--ARG-1663 DEL AND 1013-ARG--ARG-1663 DEL;
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.