Variant position: 106 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 RNSEISKQLGYQWKMLTEAE KWPFFQEAQKLQAMHREKYPN
Gorilla RNSEISKQLGYQWKMLTEAE KWPFFQEAQKLQAMHREKYPN
Rhesus macaque RNSEISKQLGYQWKMLTEAD KWPFFQEAQKLQAMHREKYPN
Chimpanzee RNSEISKQLGYQWKMLTEAE KWPFFQEAQKLQAMHREKYPN
Mouse QNTEISKQLGCRWKSLTEAE KRPFFQEAQRLKILHREKYPN
Rat QNSEISKHLGYQWKSLTEAE KRPFFQEAQRLKTLHREKYPN
Pig QNSEISKWLGCKWKMLTEAE KRPFFEEAQRLQAVHRDKYPG
Bovine KNSDISKQLGYEWKRLTDAE KRPFFEEAQRLLAIHRDKYPG
Goat QNSEISKQLGYEWKRLTDAE KRPFFEEAQRLLAIHRDKYPG
Sheep QNSEISKQLGYEWKRLTDAE KRPFFEEAQRLLAIHRDKYPG
Cat QNSEISKQLGYQWKMLTQAE KWPFFEEAQRLQALHREKYPG
Horse QNSEISKRLGCQWKMLTEAE KLPFFEEAQRLRAMHQEKYPD
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.
123 – 123 K -> R. Does not abolish acetylation.
103 – 118
Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.
Hawkins J.R.; Taylor A.; Goodfellow P.N.; Migeon C.J.; Smith K.D.; Berkovitz G.D.;
Am. J. Hum. Genet. 51:979-984(1992)
Cited for: VARIANTS SRXY1 MET-90 AND ILE-106;
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.