Variant position: 406 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 573 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 YMAPELLDKTLDLQDWGMAL RRADIYSLALLLWEILSRCPD
Mouse YMAPELLDKTLDLQDWGTAL QRADVYSLALLLWEILSRCSD
Rat YMAPELLDKTLDLQDWGTAL QRADVYSLALLLWEILSRCSD
Rabbit YMAPELLDKSLDLQDWGTAL RRADVYSLALLLWEILSRCPD
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
18 – 573 Anti-Muellerian hormone type-2 receptor
171 – 573 Cytoplasmic
203 – 518 Protein kinase
381 – 475 Missing. In isoform 3.
Autosomal recessive segregation of a truncating mutation of anti-Muellerian type II receptor in a family affected by the persistent Muellerian duct syndrome contrasts with its dominant negative activity in vitro.
Messika-Zeitoun L.; Gouedard L.; Belville C.; Dutertre M.; Lins L.; Imbeaud S.; Hughes I.A.; Picard J.-Y.; Josso N.; di Clemente N.;
J. Clin. Endocrinol. Metab. 86:4390-4397(2001)
Cited for: VARIANT PMDS2 GLN-406;
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