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UniProtKB/Swiss-Prot Q05066: Variant p.Phe67Val

Sex-determining region Y protein
Gene: SRY
Variant information

Variant position:  67
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 Phenylalanine (F) to Valine (V) at position 67 (F67V, p.Phe67Val).
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 medium size and hydrophobic (V)
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:  67
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:   ETGENSKGNVQDRVKRPMNA  F IVWSRDQRRKMALENPRMRN
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                         ETGENSKGNVQDRVKRPMNAFIVWSRDQRRKMALENPRMRN

Gorilla                       ETGENSKGSVQDRVKRPMNAFIVWSRDQRRKMALENPRMRN

                              ESGGNGRDSGRNRVRRPMNAFLVWSRDQRRKMALENPQMQN

Rhesus macaque                EAGENSKGSVQDKVKRPMNAFIVWSRDQKRKMALENPKMRN

Chimpanzee                    ETGENSKDSVQDRVKRPMNAFFVWSRDQRRKMALENPRMRN

Mouse                         ---------MEGHVKRPMNAFMVWSRGERHKLAQQNPSMQN

Rat                           ---------MEGHVKRPMNAFMVWSRGERRKLAQQNPSMQN

Pig                           ETRGSGRESGQDRVKRPMNAFIVWSRDQRRKVALENPQMQN

Bovine                        ERGEHVRESSQDHVKRPMNAFIVWSRERRRKVALENPKMKN

Goat                          ERGENVTESSQDHVKRPMNAFIVWSRERRRKVALENPKLQN

Sheep                         ERGENVRESSQNHVKRPMNAFIVWSRERRRKVALENPKLQN

Cat                           ETRGKGRDRGQDRVKRPMNAFMVWSRDQRRKVALENPQTQN

Horse                         ETRGNGRENGQDRVKRPMNAFMVWSRDHRRKVALENPQLQN

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 61 – 77 Required for nuclear localization
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

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
Scherer G.; Held M.; Erdel M.; Meschede D.; Horst J.; Lesniewicz R.; Midro A.T.;
Cytogenet. Cell Genet. 80:188-192(1998)
Cited for: VARIANTS SRXY1 ARG-64 AND VAL-67;

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.