UniProtKB/Swiss-Prot Q05066: Variant p.Phe109Ser

Sex-determining region Y protein
Gene: SRY
Chromosomal location: Yp11.3
Variant information

Variant position:  109
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Phenylalanine (F) to Serine (S) at position 109 (F109S, p.Phe109Ser).
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:  Change from large size and aromatic (F) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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

Involvement in disease:  46,XY sex reversal 1 (SRXY1) [MIM:400044]: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients manifest rapid and early degeneration of their gonads, which are present in the adult as 'streak gonads', consisting mainly of fibrous tissue and variable amounts of ovarian stroma. As a result these patients do not develop secondary sexual characteristics at puberty. The external genitalia in these subjects are completely female, and Muellerian structures are normal. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In SRXY1.
Any additional useful information about the variant.



Sequence information

Variant position:  109
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:   EISKQLGYQWKMLTEAEKWP  F FQEAQKLQAMHREKYPNYKY
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                         EISKQLGYQWKMLTEAEKWPFFQEAQKLQAMHREKYPNYKY

Gorilla                       EISKQLGYQWKMLTEAEKWPFFQEAQKLQAMHREKYPNYKY

Rhesus macaque                EISKQLGYQWKMLTEADKWPFFQEAQKLQAMHREKYPNYKY

Chimpanzee                    EISKQLGYQWKMLTEAEKWPFFQEAQKLQAMHREKYPNYKY

Mouse                         EISKQLGCRWKSLTEAEKRPFFQEAQRLKILHREKYPNYKY

Pig                           EISKWLGCKWKMLTEAEKRPFFEEAQRLQAVHRDKYPGYKY

Bovine                        DISKQLGYEWKRLTDAEKRPFFEEAQRLLAIHRDKYPGYKY

Goat                          EISKQLGYEWKRLTDAEKRPFFEEAQRLLAIHRDKYPGYKY

Sheep                         EISKQLGYEWKRLTDAEKRPFFEEAQRLLAIHRDKYPGYKY

Cat                           EISKQLGYQWKMLTQAEKWPFFEEAQRLQALHREKYPGYRY

Dog                           EISKQLGYQWKMLTEAEKWPFFEEAQRLQAMHREKYPDYKY

Horse                         EISKRLGCQWKMLTEAEKLPFFEEAQRLRAMHQEKYPDYKY

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.

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
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.
Helix 103 – 123


Literature citations

A familial mutation in the testis-determining gene SRY shared by both sexes.
Jaeger R.J.; Harley V.R.; Pfeiffer R.A.; Goodfellow P.N.; Scherer G.;
Hum. Genet. 90:350-355(1992)
Cited for: VARIANT SRXY1 SER-109;

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.