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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q05066: Variant p.Tyr127Phe

Sex-determining region Y protein
Gene: SRY
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Variant information Variant position: help 127 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Tyrosine (Y) to Phenylalanine (F) at position 127 (Y127F, p.Tyr127Phe). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are large size and aromatic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SRXY1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 127 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 204 The length of the canonical sequence.
Location on the sequence: help WPFFQEAQKLQAMHREKYPN Y KYRPRRKAKMLPKNCSLLPA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         WPFFQEAQKLQAMHREKYPNYKYRPRRKAKMLPKNCSLLPA

Gorilla                       WPFFQEAQKLQAMHREKYPNYKYRPRRKAKMLPKNCSLLPA

                              WPFFEEAQRLQAMHREKYPDYKYRPRRKAT-AQKSHKLLPA

Rhesus macaque                WPFFQEAQKLQAMHREKYPNYKYRPRRKAKMLQNSCSLLPA

Chimpanzee                    WPFFQEAQKLQAMHREKYPNYKYRPRRKANMLPKNCSLLPA

Mouse                         RPFFQEAQRLKILHREKYPNYKYQPHRRAKVSQRSGILQPA

Rat                           RPFFQEAQRLKTLHREKYPNYKYQPHRRVKVPQRSYTLQRE

Pig                           RPFFEEAQRLQAVHRDKYPGYKYRPRRKGERAQN---LLPA

Bovine                        RPFFEEAQRLLAIHRDKYPGYKYRPRRRAKRPQKS---LPA

Goat                          RPFFEEAQRLLAIHRDKYPGYKYRPRRKAKRPQKS---LDA

Sheep                         RPFFEEAQRLLAIHRDKYPGYKYRPRRKAKRPQKS---LAA

Cat                           WPFFEEAQRLQALHREKYPGYRYRPRRKAR-PEKSDKLPPA

Horse                         LPFFEEAQRLRAMHQEKYPDYKYRPRRKAKMPQKSDKPLPQ
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 204 Sex-determining region Y protein
DNA binding 60 – 128 HMG box
Region 59 – 136 Sufficient for interaction with KPNB1
Region 107 – 139 Sufficient for interaction with EP300
Modified residue 136 – 136 N6-acetyllysine
Mutagenesis 115 – 115 K -> R. Does not abolish acetylation activity.
Mutagenesis 123 – 123 K -> R. Does not abolish acetylation.
Mutagenesis 128 – 128 K -> R. Does not abolish acetylation.
Mutagenesis 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.
Mutagenesis 134 – 134 K -> R. Does not abolish acetylation.
Mutagenesis 136 – 136 K -> R. Abolishes acetylation. Does not abolish interaction with EP300. Does not abolish DNA-binding. Enhances cytoplasmic localization. Abolishes interaction with KPNB1.



Literature citations
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
Jordan B.K.; Jain M.; Natarajan S.; Frasier S.D.; Vilain E.;
J. Clin. Endocrinol. Metab. 87:3428-3432(2002)
Cited for: VARIANT SRXY1 PHE-127;
Disclaimer: 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.