Variant position: 60 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 CNSKYQCETGENSKGNVQDR VKRPMNAFIVWSRDQRRKMAL
Gorilla CNSKYQCETGENSKGSVQDR VKRPMNAFIVWSRDQRRKMAL
Rhesus macaque CSSKYQCEAGENSKGSVQDK VKRPMNAFIVWSRDQKRKMAL
Chimpanzee YNSKYQRETGENSKDSVQDR VKRPMNAFFVWSRDQRRKMAL
Mouse ----------------MEGH VKRPMNAFMVWSRGERHKLAQ
Pig HSSNDGRETRGSGRESGQDR VKRPMNAFIVWSRDQRRKVAL
Bovine HSANDQCERGEHVRESSQDH VKRPMNAFIVWSRERRRKVAL
Goat HSANDQCERGENVTESSQDH VKRPMNAFIVWSRERRRKVAL
Sheep HSANDQRERGENVRESSQNH VKRPMNAFIVWSRERRRKVAL
Cat PTSNYRCETRGKGRDRGQDR VKRPMNAFMVWSRDQRRKVAL
Horse PGSHFRSETRGNGRENGQDR VKRPMNAFMVWSRDHRRKVAL
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.
Genetic evidence equating SRY and the testis-determining factor.
Berta P.; Hawkins J.R.; Sinclair A.H.; Taylor A.; Griffiths B.L.; Goodfellow P.N.; Fellous M.;
Cited for: VARIANTS SRXY1 LEU-60 AND ILE-64;
Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.
Vilain E.; McElreavey K.; Jaubert F.; Raymond J.-P.; Richaud F.; Fellous M.;
Am. J. Hum. Genet. 50:1008-1011(1992)
Cited for: VARIANT SRXY1 LEU-60;
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