Variant position: 78 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 DRVKRPMNAFIVWSRDQRRK MALENPRMRNSEISKQLGYQW
Gorilla DRVKRPMNAFIVWSRDQRRK MALENPRMRNSEISKQLGYQW
Rhesus macaque DKVKRPMNAFIVWSRDQKRK MALENPKMRNSEISKQLGYQW
Chimpanzee DRVKRPMNAFFVWSRDQRRK MALENPRMRNSEISKQLGYQW
Mouse GHVKRPMNAFMVWSRGERHK LAQQNPSMQNTEISKQLGCRW
Rat GHVKRPMNAFMVWSRGERRK LAQQNPSMQNSEISKHLGYQW
Pig DRVKRPMNAFIVWSRDQRRK VALENPQMQNSEISKWLGCKW
Bovine DHVKRPMNAFIVWSRERRRK VALENPKMKNSDISKQLGYEW
Goat DHVKRPMNAFIVWSRERRRK VALENPKLQNSEISKQLGYEW
Sheep NHVKRPMNAFIVWSRERRRK VALENPKLQNSEISKQLGYEW
Cat DRVKRPMNAFMVWSRDQRRK VALENPQTQNSEISKQLGYQW
Horse DRVKRPMNAFMVWSRDHRRK VALENPQLQNSEISKRLGCQW
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
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
Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.
Affara N.A.; Chalmers I.J.; Ferguson-Smith M.A.;
Hum. Mol. Genet. 2:785-789(1993)
Cited for: VARIANTS SRXY1 GLY-62; THR-78 AND TRP-133;
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.