Variant position: 76 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 VQDRVKRPMNAFIVWSRDQR RKMALENPRMRNSEISKQLGY
Gorilla VQDRVKRPMNAFIVWSRDQR RKMALENPRMRNSEISKQLGY
Rhesus macaque VQDKVKRPMNAFIVWSRDQK RKMALENPKMRNSEISKQLGY
Chimpanzee VQDRVKRPMNAFFVWSRDQR RKMALENPRMRNSEISKQLGY
Mouse MEGHVKRPMNAFMVWSRGER HKLAQQNPSMQNTEISKQLGC
Rat MEGHVKRPMNAFMVWSRGER RKLAQQNPSMQNSEISKHLGY
Pig GQDRVKRPMNAFIVWSRDQR RKVALENPQMQNSEISKWLGC
Bovine SQDHVKRPMNAFIVWSRERR RKVALENPKMKNSDISKQLGY
Goat SQDHVKRPMNAFIVWSRERR RKVALENPKLQNSEISKQLGY
Sheep SQNHVKRPMNAFIVWSRERR RKVALENPKLQNSEISKQLGY
Cat GQDRVKRPMNAFMVWSRDQR RKVALENPQTQNSEISKQLGY
Horse GQDRVKRPMNAFMVWSRDHR RKVALENPQLQNSEISKRLGC
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
61 – 77 Required for nuclear localization
62 – 62 R -> G. Strongly reduces nuclear localization. Strongly reduces nuclear localization; when associated with W-133. Reduces interaction with KPNB1. Abolishes DNA-binding.
64 – 64 M -> I. Abolishes nuclear localization.
75 – 75 R -> N. Strongly reduces nuclear localization. Abolishes DNA-binding. Does not reduce interaction with KPNB1 and CAML.
76 – 76 R -> P. Reduces nuclear localization. Reduces DNA-binding. Does not reduce interaction with KPNB1 and CAML.
66 – 79
A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father.
Imai A.; Takagi A.; Tamaya T.;
Endocr. J. 46:735-739(1999)
Cited for: VARIANT SRXY1 SER-76;
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