UniProtKB/Swiss-Prot Q01534: Variant p.Pro195Arg

Testis-specific Y-encoded protein 1
Gene: TSPY1
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Variant information Variant position:

195 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Proline (P) to Arginine (R) at position 195 (P195R, p.Pro195Arg). 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 (P) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Polymorphism:

Variants Val-Glu-Val-Val-Ala-Glu-79 Ins and Arg-195 are shown to be present in a number of TSPY1 copies of the Yp11 loci. Variant Arg-195 is shown to be present at least in one TSPY1 copy of the Yq locus.Maps to a tandemly repeated region on chromosome Yp11; additionally at least one copy is reported originating from Yq. The gene is thought to be present with an inter-individual variation in copy number and between 20 and 60 copies per Y chromosome are expected. PubMed:12815422 reports 35 tandemly repeated gene copies on Yp11 originating from one individual. - Additional information on the polymorphism described.

Sequence information Variant position:

195 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

308 The length of the canonical sequence.
Location on the sequence:

DEDEDMLSYMVSLEVGEEKH P VHLCKIMLFFRSNPYFQNKV 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                         DEDEDMLSYMVSLEVGEEKHPVHLCKIMLFFRSNPYFQNKV

Rat                           NQDEDLLSYMLSLEVEEYNPGLRMCRMMFFFSENPYFRNDI

Bovine                        DQDQDFLGYMMDLKVQVRSHPPSRCKLIFSFRDNPYFLNSV

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.

Type	Positions	Description
Chain	1 – 308	Testis-specific Y-encoded protein 1

Literature citations
Characterization of a new TSPY gene family member in Yq (TSPYq1).
Ratti A.; Stuppia L.; Gatta V.; Fogh I.; Calabrese G.; Pizzuti A.; Palka G.;
Cytogenet. Cell Genet. 88:159-162(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); DISEASE; VARIANT ARG-195; TSPY variants in six loci on the human Y chromosome.
Dechend F.; Williams G.; Skawran B.; Schubert S.; Krawczak M.; Tyler-Smith C.; Schmidtke J.;
Cytogenet. Cell Genet. 91:67-71(2000)
Cited for: VARIANTS VAL-GLU-VAL-VAL-ALA-GLU-79 INS AND ARG-195; GENE FAMILY ORGANIZATION;

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.