Variant position: 75 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 NVQDRVKRPMNAFIVWSRDQ RRKMALENPRMRNSEISKQLG
Gorilla SVQDRVKRPMNAFIVWSRDQ RRKMALENPRMRNSEISKQLG
Rhesus macaque SVQDKVKRPMNAFIVWSRDQ KRKMALENPKMRNSEISKQLG
Chimpanzee SVQDRVKRPMNAFFVWSRDQ RRKMALENPRMRNSEISKQLG
Mouse -MEGHVKRPMNAFMVWSRGE RHKLAQQNPSMQNTEISKQLG
Rat -MEGHVKRPMNAFMVWSRGE RRKLAQQNPSMQNSEISKHLG
Pig SGQDRVKRPMNAFIVWSRDQ RRKVALENPQMQNSEISKWLG
Bovine SSQDHVKRPMNAFIVWSRER RRKVALENPKMKNSDISKQLG
Goat SSQDHVKRPMNAFIVWSRER RRKVALENPKLQNSEISKQLG
Sheep SSQNHVKRPMNAFIVWSRER RRKVALENPKLQNSEISKQLG
Cat RGQDRVKRPMNAFMVWSRDQ RRKVALENPQTQNSEISKQLG
Horse NGQDRVKRPMNAFMVWSRDH RRKVALENPQLQNSEISKRLG
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 missense mutation 224G>T (R75M) in SRY coding region interferes with nuclear import and results in 46, XY complete gonadal dysgenesis.
Fan W.; Wang B.; He S.; Zhang T.; Yin C.; Chen Y.; Zheng S.; Zhang J.; Li L.;
PLoS ONE 11:E0168484-E0168484(2016)
Cited for: INVOLVEMENT IN SRXY1; VARIANT SRXY1 MET-75; CHARACTERIZATION OF VARIANT SRXY1 MET-75; SUBCELLULAR LOCATION;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.