Variant position: 95 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 RRKMALENPRMRNSEISKQL GYQWKMLTEAEKWPFFQEAQK
Gorilla RRKMALENPRMRNSEISKQL GYQWKMLTEAEKWPFFQEAQK
Rhesus macaque KRKMALENPKMRNSEISKQL GYQWKMLTEADKWPFFQEAQK
Chimpanzee RRKMALENPRMRNSEISKQL GYQWKMLTEAEKWPFFQEAQK
Mouse RHKLAQQNPSMQNTEISKQL GCRWKSLTEAEKRPFFQEAQR
Rat RRKLAQQNPSMQNSEISKHL GYQWKSLTEAEKRPFFQEAQR
Pig RRKVALENPQMQNSEISKWL GCKWKMLTEAEKRPFFEEAQR
Bovine RRKVALENPKMKNSDISKQL GYEWKRLTDAEKRPFFEEAQR
Goat RRKVALENPKLQNSEISKQL GYEWKRLTDAEKRPFFEEAQR
Sheep RRKVALENPKLQNSEISKQL GYEWKRLTDAEKRPFFEEAQR
Cat RRKVALENPQTQNSEISKQL GYQWKMLTQAEKWPFFEEAQR
Horse RRKVALENPQLQNSEISKRL GCQWKMLTEAEKLPFFEEAQR
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.
115 – 115 K -> R. Does not abolish acetylation activity.
87 – 98
Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.
Schaeffler A.; Barth N.; Winkler K.; Zietz B.; Ruemmele P.; Knuechel R.; Schoelmerich J.; Palitzsch K.-D.;
J. Clin. Endocrinol. Metab. 85:2287-2292(2000)
Cited for: VARIANT SRXY1 GLU-95;
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