Variant position: 235 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 392 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 SGGLEL-WHGTSSLDIAFLLL YFNDTHKSIRKAKFLPRGMEE
Mouse NETREFRWHGMTSLDVAFLLL YFNDTDDRVQ-GKLLARGQE
Bovine SEVREFWWHGTSSLDTVFLLL YFNDT-QSVQKTKPLPKGLK
Sheep SEVLEFWWHGTSSLDTVFLLL YFNDT-QSVQKTKPLPKGLK
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
19 – 267
237 – 237 N-linked (GlcNAc...) asparagine
Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene.
Di Pasquale E.; Beck-Peccoz P.; Persani L.;
Am. J. Hum. Genet. 75:106-111(2004)
Cited for: VARIANT ODG2 CYS-235; CHARACTERIZATION OF VARIANT ODG2 CYS-235;
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.
Di Pasquale E.; Rossetti R.; Marozzi A.; Bodega B.; Borgato S.; Cavallo L.; Einaudi S.; Radetti G.; Russo G.; Sacco M.; Wasniewska M.; Cole T.; Beck-Peccoz P.; Nelson L.M.; Persani L.;
J. Clin. Endocrinol. Metab. 91:1976-1979(2006)
Cited for: VARIANTS POF4 TRP-68; THR-180 AND CYS-235; VARIANT LEU-263 INS;
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