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UniProtKB/Swiss-Prot Q05066: Variant p.Ser18Asn

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

Variant position:  18
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 implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Asparagine (N) at position 18 (S18N, p.Ser18Asn).
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 small size and polar (S) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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. {ECO:0000269|PubMed:10670762, ECO:0000269|PubMed:10721678, ECO:0000269|PubMed:10843173, ECO:0000269|PubMed:10852465, ECO:0000269|PubMed:11563911, ECO:0000269|PubMed:12107262, ECO:0000269|PubMed:12793612, ECO:0000269|PubMed:1339396, ECO:0000269|PubMed:1415266, ECO:0000269|PubMed:1483689, ECO:0000269|PubMed:1570829, ECO:0000269|PubMed:17063144, ECO:0000269|PubMed:2247149, ECO:0000269|PubMed:28030592, ECO:0000269|PubMed:7717397, ECO:0000269|PubMed:7776083, ECO:0000269|PubMed:7985018, ECO:0000269|PubMed:8019555, ECO:0000269|PubMed:8105086, ECO:0000269|PubMed:8353496, ECO:0000269|PubMed:8447323, ECO:0000269|PubMed:9450909, ECO:0000269|PubMed:9521592, ECO:0000269|PubMed:9678356, ECO:0000269|Ref.41, ECO:0000269|Ref.47}. 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; partial; also in two patients with a Turner syndrome phenotype.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  18
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  204
The length of the canonical 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.






Mouse                         --------------------------------------


Bovine                        -------MFRVLNDDVYSPAVVQQQTTLAFRKDSS-LC



Cat                           -------MLRVLSSDEHREA-VQQQNILAVEGTSCELC

Horse                         -------MSRVSNSDNYSLA-GQQHTVLGSGRTSSLLW

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.

Chain 1 – 204 Sex-determining region Y protein

Literature citations

A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.
Domenice S.; Nishi M.Y.; Billerbeck A.E.C.; Latronico A.C.; Medeiros M.A.; Russell A.J.; Vass K.; Carvalho F.M.; Costa-Frade E.M.; Arnhold I.J.P.; Mendonca B.B.;
Hum. Genet. 102:213-215(1998)
Cited for: VARIANT SRXY1 ASN-18;

A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.
Canto P.; de la Chesnaye E.; Lopez M.; Cervantes A.; Chavez B.; Vilchis F.; Reyes E.; Ulloa-Aguirre A.; Kofman-Alfaro S.; Mendez J.P.;
J. Clin. Endocrinol. Metab. 85:1908-1911(2000)
Cited for: VARIANT SRXY1 ASN-18;

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.