Variant position: 113 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 QLGYQWKMLTEAEKWPFFQE AQKLQAMHREKYPNYKYRPRR
Gorilla QLGYQWKMLTEAEKWPFFQE AQKLQAMHREKYPNYKYRPRR
Rhesus macaque QLGYQWKMLTEADKWPFFQE AQKLQAMHREKYPNYKYRPRR
Chimpanzee QLGYQWKMLTEAEKWPFFQE AQKLQAMHREKYPNYKYRPRR
Mouse QLGCRWKSLTEAEKRPFFQE AQRLKILHREKYPNYKYQPHR
Rat HLGYQWKSLTEAEKRPFFQE AQRLKTLHREKYPNYKYQPHR
Pig WLGCKWKMLTEAEKRPFFEE AQRLQAVHRDKYPGYKYRPRR
Bovine QLGYEWKRLTDAEKRPFFEE AQRLLAIHRDKYPGYKYRPRR
Goat QLGYEWKRLTDAEKRPFFEE AQRLLAIHRDKYPGYKYRPRR
Sheep QLGYEWKRLTDAEKRPFFEE AQRLLAIHRDKYPGYKYRPRR
Cat QLGYQWKMLTQAEKWPFFEE AQRLQALHREKYPGYRYRPRR
Horse RLGCQWKMLTEAEKLPFFEE AQRLRAMHQEKYPDYKYRPRR
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
107 – 139 Sufficient for interaction with EP300
115 – 115 K -> R. Does not abolish acetylation activity.
123 – 123 K -> R. Does not abolish acetylation.
128 – 128 K -> R. Does not abolish acetylation.
133 – 133 R -> W. Reduces nuclear localization. Strongly reduces nuclear localization; when associated with G-62. Reduces interaction with KPNB1. Does not reduce interaction with CAML. Does not abolish DNA-binding.
103 – 118
A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.
Zeng Y.; Ren Z.; Zhang M.; Huang Y.; Zeng F.; Huang S.;
J. Med. Genet. 30:655-657(1993)
Cited for: VARIANT SRXY1 THR-113;
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.