Variant position: 64 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 YQCETGENSKGNVQDRVKRP MNAFIVWSRDQRRKMALENPR
Gorilla YQCETGENSKGSVQDRVKRP MNAFIVWSRDQRRKMALENPR
Rhesus macaque YQCEAGENSKGSVQDKVKRP MNAFIVWSRDQKRKMALENPK
Chimpanzee YQRETGENSKDSVQDRVKRP MNAFFVWSRDQRRKMALENPR
Mouse ------------MEGHVKRP MNAFMVWSRGERHKLAQQNPS
Pig DGRETRGSGRESGQDRVKRP MNAFIVWSRDQRRKVALENPQ
Bovine DQCERGEHVRESSQDHVKRP MNAFIVWSRERRRKVALENPK
Goat DQCERGENVTESSQDHVKRP MNAFIVWSRERRRKVALENPK
Sheep DQRERGENVRESSQNHVKRP MNAFIVWSRERRRKVALENPK
Cat YRCETRGKGRDRGQDRVKRP MNAFMVWSRDQRRKVALENPQ
Dog YRCESGGNGRDSGRNRVRRP MNAFLVWSRDQRRKMALENPQ
Horse FRSETRGNGRENGQDRVKRP MNAFMVWSRDHRRKVALENPQ
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.
Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation.
Murphy E.C.; Zhurkin V.B.; Louis J.M.; Cornilescu G.; Clore G.M.;
J. Mol. Biol. 312:481-499(2001)
Cited for: STRUCTURE BY NMR OF 57-218 IN COMPLEX WITH DNA; CHARACTERIZATION OF VARIANT SRXY1 ILE-64; FUNCTION;
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;
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.