Variant position: 477 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 560 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 AADGPCALRELSVDLRAERS VLIPETYQANNCQGVCGWPQS
Mouse GQDGPCALRELSVDLRAERS VLIPETYQANNCQGACRWPQS
Rat GTDGLCALRELSVDLRAERS VLIPETYQANNCQGACAWPQS
Pig VSNGPCALRELSVDLRAERS VLIPETYQANNCQGTCGWPQS
Bovine AADGPCALRELSVDLRAERS VLIPETYQANNCQGACGWPQS
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
26 – 560 Muellerian-inhibiting factor
462 – 526
Molecular genetics of the persistent Mullerian duct syndrome: a study of 19 families.
Imbeaud S.; Carre-Eusebe D.; Rey R.; Belville C.; Josso N.; Picard J.-Y.;
Hum. Mol. Genet. 3:125-131(1994)
Cited for: VARIANTS PMDS1 GLY-12; PRO-70; VAL-101; TRP-123; CYS-167; CYS-194 AND ALA-477;
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