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UniProtKB/Swiss-Prot Q05066: Variant p.Leu101His

Sex-determining region Y protein
Gene: SRY
Variant information

Variant position:  101
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 Leucine (L) to Histidine (H) at position 101 (L101H, p.Leu101His).
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 (L) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  101
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:   ENPRMRNSEISKQLGYQWKM  L TEAEKWPFFQEAQKLQAMHR
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                         ENPRMRNSEISKQLGYQWKMLTEAEKWPFFQEAQKLQAMHR

Gorilla                       ENPRMRNSEISKQLGYQWKMLTEAEKWPFFQEAQKLQAMHR

                              ENPQMQNSEISKQLGYQWKMLTEAEKWPFFEEAQRLQAMHR

Rhesus macaque                ENPKMRNSEISKQLGYQWKMLTEADKWPFFQEAQKLQAMHR

Chimpanzee                    ENPRMRNSEISKQLGYQWKMLTEAEKWPFFQEAQKLQAMHR

Mouse                         QNPSMQNTEISKQLGCRWKSLTEAEKRPFFQEAQRLKILHR

Rat                           QNPSMQNSEISKHLGYQWKSLTEAEKRPFFQEAQRLKTLHR

Pig                           ENPQMQNSEISKWLGCKWKMLTEAEKRPFFEEAQRLQAVHR

Bovine                        ENPKMKNSDISKQLGYEWKRLTDAEKRPFFEEAQRLLAIHR

Goat                          ENPKLQNSEISKQLGYEWKRLTDAEKRPFFEEAQRLLAIHR

Sheep                         ENPKLQNSEISKQLGYEWKRLTDAEKRPFFEEAQRLLAIHR

Cat                           ENPQTQNSEISKQLGYQWKMLTQAEKWPFFEEAQRLQALHR

Horse                         ENPQLQNSEISKRLGCQWKMLTEAEKLPFFEEAQRLRAMHQ

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 115 – 115 K -> R. Does not abolish acetylation activity.


Literature citations

True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.
Braun A.; Kammerer S.; Cleve H.; Loehrs U.; Schwarz H.-P.; Kuhnle U.;
Am. J. Hum. Genet. 52:578-585(1993)
Cited for: VARIANT SRXY1 HIS-101;

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.