Variant position: 91 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 SRDQRRKMALENPRMRNSEI SKQLGYQWKMLTEAEKWPFFQ
Gorilla SRDQRRKMALENPRMRNSEI SKQLGYQWKMLTEAEKWPFFQ
Rhesus macaque SRDQKRKMALENPKMRNSEI SKQLGYQWKMLTEADKWPFFQ
Chimpanzee SRDQRRKMALENPRMRNSEI SKQLGYQWKMLTEAEKWPFFQ
Mouse SRGERHKLAQQNPSMQNTEI SKQLGCRWKSLTEAEKRPFFQ
Rat SRGERRKLAQQNPSMQNSEI SKHLGYQWKSLTEAEKRPFFQ
Pig SRDQRRKVALENPQMQNSEI SKWLGCKWKMLTEAEKRPFFE
Bovine SRERRRKVALENPKMKNSDI SKQLGYEWKRLTDAEKRPFFE
Goat SRERRRKVALENPKLQNSEI SKQLGYEWKRLTDAEKRPFFE
Sheep SRERRRKVALENPKLQNSEI SKQLGYEWKRLTDAEKRPFFE
Cat SRDQRRKVALENPQTQNSEI SKQLGYQWKMLTQAEKWPFFE
Horse SRDHRRKVALENPQLQNSEI SKRLGCQWKMLTEAEKLPFFE
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
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.
87 – 98
Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.
Schmitt-Ney M.; Thiele H.; Kaltwasser P.; Bardoni B.; Cisternino M.; Scherer G.;
Am. J. Hum. Genet. 56:862-869(1995)
Cited for: VARIANTS SRXY1 GLY-91 AND LEU-125;
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.