Variant position: 101 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 ENPRMRNSEISKQLGYQWKM LTEAEKWPFFQEAQKLQAMHR
Gorilla ENPRMRNSEISKQLGYQWKM LTEAEKWPFFQEAQKLQAMHR
Rhesus macaque ENPKMRNSEISKQLGYQWKM LTEADKWPFFQEAQKLQAMHR
Chimpanzee ENPRMRNSEISKQLGYQWKM LTEAEKWPFFQEAQKLQAMHR
Mouse QNPSMQNTEISKQLGCRWKS LTEAEKRPFFQEAQRLKILHR
Rat QNPSMQNSEISKHLGYQWKS LTEAEKRPFFQEAQRLKTLHR
Pig ENPQMQNSEISKWLGCKWKM LTEAEKRPFFEEAQRLQAVHR
Bovine ENPKMKNSDISKQLGYEWKR LTDAEKRPFFEEAQRLLAIHR
Goat ENPKLQNSEISKQLGYEWKR LTDAEKRPFFEEAQRLLAIHR
Sheep ENPKLQNSEISKQLGYEWKR LTDAEKRPFFEEAQRLLAIHR
Cat ENPQTQNSEISKQLGYQWKM LTQAEKWPFFEEAQRLQALHR
Horse ENPQLQNSEISKRLGCQWKM LTEAEKLPFFEEAQRLRAMHQ
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
115 – 115 K -> R. Does not abolish acetylation activity.
True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.
Braun A.; Kammerer S.; Cleve H.; Loehrs U.; Schwarz H.-P.; Kuhnle U.;
Am. J. Hum. Genet. 52:578-585(1993)
Cited for: VARIANT SRXY1 HIS-101;
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