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UniProtKB/Swiss-Prot Q9BZG2: Variant p.Ser238Leu

Testicular acid phosphatase
Gene: ACPT
Chromosomal location: 19q13.4
Variant information

Variant position:  238
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Serine (S) to Leucine (L) at position 238 (S238L, p.Ser238Leu).
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 small size and polar (S) to medium size and hydrophobic (L)
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

Involvement in disease:  Amelogenesis imperfecta 1J (AI1J) [MIM:617297]: A form of amelogenesis imperfecta, a disorder characterized by defective enamel formation. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration. AI1J is an autosomal recessive form characterized by hypoplastic enamel, enamel discolorization ranging from yellow to black, and normal dentin. {ECO:0000269|PubMed:27843125}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In AI1J.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  238
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  426
The length of the canonical sequence.

Location on the sequence:   HGLPLPAWASPDVLRTLAQI  S ALDIGAHVGPPRAAEKAQLT
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.

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 27 – 426 Testicular acid phosphatase
Topological domain 27 – 393 Extracellular
Disulfide bond 159 – 378
Disulfide bond 214 – 312
Alternative sequence 93 – 426 Missing. In isoform 3.


Literature citations

Recessive mutations in ACPT, encoding testicular acid phosphatase, cause hypoplastic amelogenesis imperfecta.
Seymen F.; Kim Y.J.; Lee Y.J.; Kang J.; Kim T.H.; Choi H.; Koruyucu M.; Kasimoglu Y.; Tuna E.B.; Gencay K.; Shin T.J.; Hyun H.K.; Kim Y.J.; Lee S.H.; Lee Z.H.; Zhang H.; Hu J.C.; Simmer J.P.; Cho E.S.; Kim J.W.;
Am. J. Hum. Genet. 99:1199-1205(2016)
Cited for: INVOLVEMENT IN AI1J; VARIANTS AI1J CYS-76; CYS-111; PRO-128; LYS-133 AND LEU-238; FUNCTION;

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.