Home  |  Contact

UniProtKB/Swiss-Prot Q05066: Variant p.Met64Arg

Sex-determining region Y protein
Gene: SRY
Variant information

Variant position:  64
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 Arginine (R) at position 64 (M64R, p.Met64Arg).
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 large size and basic (R)
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:  64
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:   YQCETGENSKGNVQDRVKRP  M NAFIVWSRDQRRKMALENPR
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                         YQCETGENSKGNVQDRVKRPMNAFIVWSRDQRRKMALENPR

Gorilla                       YQCETGENSKGSVQDRVKRPMNAFIVWSRDQRRKMALENPR

                              YRCESGGNGRDSGRNRVRRPMNAFLVWSRDQRRKMALENPQ

Rhesus macaque                YQCEAGENSKGSVQDKVKRPMNAFIVWSRDQKRKMALENPK

Chimpanzee                    YQRETGENSKDSVQDRVKRPMNAFFVWSRDQRRKMALENPR

Mouse                         ------------MEGHVKRPMNAFMVWSRGERHKLAQQNPS

Rat                           ------------MEGHVKRPMNAFMVWSRGERRKLAQQNPS

Pig                           DGRETRGSGRESGQDRVKRPMNAFIVWSRDQRRKVALENPQ

Bovine                        DQCERGEHVRESSQDHVKRPMNAFIVWSRERRRKVALENPK

Goat                          DQCERGENVTESSQDHVKRPMNAFIVWSRERRRKVALENPK

Sheep                         DQRERGENVRESSQNHVKRPMNAFIVWSRERRRKVALENPK

Cat                           YRCETRGKGRDRGQDRVKRPMNAFMVWSRDQRRKVALENPQ

Horse                         FRSETRGNGRENGQDRVKRPMNAFMVWSRDHRRKVALENPQ

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.


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.