Variant position: 44 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 691 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 FKAQEGPPLAVPEFPVCGLY RIYGVCGSFSSFFIIRCSLCA
Mouse -------------------- ------------------LC-
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 – 691 Homeobox protein NOBOX
New NOBOX mutations identified in a large cohort of women with primary ovarian insufficiency decrease KIT-L expression.
Bouilly J.; Roucher-Boulez F.; Gompel A.; Bry-Gauillard H.; Azibi K.; Beldjord C.; Dode C.; Bouligand J.; Mantel A.G.; Hecart A.C.; Delemer B.; Young J.; Binart N.;
J. Clin. Endocrinol. Metab. 100:994-1001(2015)
Cited for: VARIANTS POF5 TRP-91; ARG-111; TRP-117 AND THR-371; CHARACTERIZATION OF VARIANTS POF5 TRP-91; ARG-111; TRP-117 AND THR-371; FUNCTION; DNA-BINDING; VARIANTS LEU-44 AND LEU-619; CHARACTERIZATION OF VARIANTS LEU-44 AND LEU-619;
Impaired protein stability and nuclear localization of NOBOX variants associated with premature ovarian insufficiency.
Ferrari I.; Bouilly J.; Beau I.; Guizzardi F.; Ferlin A.; Pollazzon M.; Salerno M.; Binart N.; Persani L.; Rossetti R.;
Hum. Mol. Genet. 25:5223-5233(2016)
Cited for: VARIANT LEU-44; CHARACTERIZATION OF VARIANT LEU-44; VARIANTS POF5 TRP-91; ARG-111; ARG-152; 449-ARG--PRO-691 DEL AND ASN-452; CHARACTERIZATION OF VARIANTS POF5 TRP-91; ARG-111; ARG-152; 449-ARG--PRO-691 DEL AND ASN-452; FUNCTION; SUBCELLULAR LOCATION;
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.