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UniProtKB/Swiss-Prot Q05066: Variant p.Ile90Met

Sex-determining region Y protein
Gene: SRY
Variant information

Variant position:  90
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Isoleucine (I) to Methionine (M) at position 90 (I90M, p.Ile90Met).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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

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

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



Sequence information

Variant position:  90
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:   WSRDQRRKMALENPRMRNSE  I SKQLGYQWKMLTEAEKWPFF
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                         WSRDQRRKMALENPRMRNSEISKQLGYQWKMLTEAEKWPFF

Gorilla                       WSRDQRRKMALENPRMRNSEISKQLGYQWKMLTEAEKWPFF

                              WSRDQRRKMALENPQMQNSEISKQLGYQWKMLTEAEKWPFF

Rhesus macaque                WSRDQKRKMALENPKMRNSEISKQLGYQWKMLTEADKWPFF

Chimpanzee                    WSRDQRRKMALENPRMRNSEISKQLGYQWKMLTEAEKWPFF

Mouse                         WSRGERHKLAQQNPSMQNTEISKQLGCRWKSLTEAEKRPFF

Rat                           WSRGERRKLAQQNPSMQNSEISKHLGYQWKSLTEAEKRPFF

Pig                           WSRDQRRKVALENPQMQNSEISKWLGCKWKMLTEAEKRPFF

Bovine                        WSRERRRKVALENPKMKNSDISKQLGYEWKRLTDAEKRPFF

Goat                          WSRERRRKVALENPKLQNSEISKQLGYEWKRLTDAEKRPFF

Sheep                         WSRERRRKVALENPKLQNSEISKQLGYEWKRLTDAEKRPFF

Cat                           WSRDQRRKVALENPQTQNSEISKQLGYQWKMLTQAEKWPFF

Horse                         WSRDHRRKVALENPQLQNSEISKRLGCQWKMLTEAEKLPFF

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
Mutagenesis 75 – 75 R -> N. Strongly reduces nuclear localization. Abolishes DNA-binding. Does not reduce interaction with KPNB1 and CAML.
Mutagenesis 76 – 76 R -> P. Reduces nuclear localization. Reduces DNA-binding. Does not reduce interaction with KPNB1 and CAML.
Helix 87 – 98


Literature citations

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;

Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.
Doerk T.; Stuhrmann M.; Miller K.; Schmidtke J.;
Hum. Mutat. 11:90-91(1998)
Cited for: VARIANT SRXY1 MET-90;

True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.
Maier E.M.; Leitner C.; Lohrs U.; Kuhnle U.;
J. Pediatr. Endocrinol. Metab. 16:575-580(2003)
Cited for: VARIANT SRXY1 MET-90;

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.