Variant position: 127 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 204 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 WPFFQEAQKLQAMHREKYPN YKYRPRRKAKMLPKNCSLLPA
Gorilla WPFFQEAQKLQAMHREKYPN YKYRPRRKAKMLPKNCSLLPA
Rhesus macaque WPFFQEAQKLQAMHREKYPN YKYRPRRKAKMLQNSCSLLPA
Chimpanzee WPFFQEAQKLQAMHREKYPN YKYRPRRKANMLPKNCSLLPA
Mouse RPFFQEAQRLKILHREKYPN YKYQPHRRAKVSQRSGILQPA
Rat RPFFQEAQRLKTLHREKYPN YKYQPHRRVKVPQRSYTLQRE
Pig RPFFEEAQRLQAVHRDKYPG YKYRPRRKG---ERAQNLLPA
Bovine RPFFEEAQRLLAIHRDKYPG YKYRPRRRAKRPQKS---LPA
Goat RPFFEEAQRLLAIHRDKYPG YKYRPRRKAKRPQKS---LDA
Sheep RPFFEEAQRLLAIHRDKYPG YKYRPRRKAKRPQKS---LAA
Cat WPFFEEAQRLQALHREKYPG YRYRPRRKAR-PEKSDKLPPA
Horse LPFFEEAQRLRAMHQEKYPD YKYRPRRKAKMPQKSDKPLPQ
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 – 204 Sex-determining region Y protein
60 – 128 HMG box
59 – 136 Sufficient for interaction with KPNB1
107 – 139 Sufficient for interaction with EP300
136 – 136 N6-acetyllysine
115 – 115 K -> R. Does not abolish acetylation activity.
123 – 123 K -> R. Does not abolish acetylation.
128 – 128 K -> R. Does not abolish acetylation.
133 – 133 R -> W. Reduces nuclear localization. Strongly reduces nuclear localization; when associated with G-62. Reduces interaction with KPNB1. Does not reduce interaction with CAML. Does not abolish DNA-binding.
134 – 134 K -> R. Does not abolish acetylation.
136 – 136 K -> R. Abolishes acetylation. Does not abolish interaction with EP300. Does not abolish DNA-binding. Enhances cytoplasmic localization. Abolishes interaction with KPNB1.
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
Jordan B.K.; Jain M.; Natarajan S.; Frasier S.D.; Vilain E.;
J. Clin. Endocrinol. Metab. 87:3428-3432(2002)
Cited for: VARIANT SRXY1 PHE-127;
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