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UniProtKB/Swiss-Prot Q05066: Variant p.Met78Thr

Sex-determining region Y protein
Gene: SRY
Variant information

Variant position:  78
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 Methionine (M) to Threonine (T) at position 78 (M78T, p.Met78Thr).
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 medium size and hydrophobic (M) to medium size and polar (T)
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.



Sequence information

Variant position:  78
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:   DRVKRPMNAFIVWSRDQRRK  M ALENPRMRNSEISKQLGYQW
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                         DRVKRPMNAFIVWSRDQRRKMALENPRMRNSEISKQLGYQW

Gorilla                       DRVKRPMNAFIVWSRDQRRKMALENPRMRNSEISKQLGYQW

                              NRVRRPMNAFLVWSRDQRRKMALENPQMQNSEISKQLGYQW

Rhesus macaque                DKVKRPMNAFIVWSRDQKRKMALENPKMRNSEISKQLGYQW

Chimpanzee                    DRVKRPMNAFFVWSRDQRRKMALENPRMRNSEISKQLGYQW

Mouse                         GHVKRPMNAFMVWSRGERHKLAQQNPSMQNTEISKQLGCRW

Rat                           GHVKRPMNAFMVWSRGERRKLAQQNPSMQNSEISKHLGYQW

Pig                           DRVKRPMNAFIVWSRDQRRKVALENPQMQNSEISKWLGCKW

Bovine                        DHVKRPMNAFIVWSRERRRKVALENPKMKNSDISKQLGYEW

Goat                          DHVKRPMNAFIVWSRERRRKVALENPKLQNSEISKQLGYEW

Sheep                         NHVKRPMNAFIVWSRERRRKVALENPKLQNSEISKQLGYEW

Cat                           DRVKRPMNAFMVWSRDQRRKVALENPQTQNSEISKQLGYQW

Horse                         DRVKRPMNAFMVWSRDHRRKVALENPQLQNSEISKRLGCQW

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 62 – 62 R -> G. Strongly reduces nuclear localization. Strongly reduces nuclear localization; when associated with W-133. Reduces interaction with KPNB1. Abolishes DNA-binding.
Mutagenesis 64 – 64 M -> I. Abolishes nuclear localization.
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 66 – 79


Literature citations

Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain.
Affara N.A.; Chalmers I.J.; Ferguson-Smith M.A.;
Hum. Mol. Genet. 2:785-789(1993)
Cited for: VARIANTS SRXY1 GLY-62; THR-78 AND TRP-133;

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.