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UniProtKB/Swiss-Prot Q96AP0: Variant p.Pro491Thr

Adrenocortical dysplasia protein homolog
Gene: ACD
Chromosomal location: 16q22
Variant information

Variant position:  491
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 Proline (P) to Threonine (T) at position 491 (P491T, p.Pro491Thr).
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 medium size and polar (T)
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

Involvement in disease:  Dyskeratosis congenita, autosomal recessive, 7 (DKCB7) [MIM:616553]: A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269|PubMed:25233904}. 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 DKCB7; localizes properly on telomeres; decreased interaction with TINF2.
Any additional useful information about the variant.

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



Sequence information

Variant position:  491
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  544
The length of the canonical sequence.

Location on the sequence:   PFPRTGATRGAQEPCSVWEP  P KRHRDGSAFQYEYEPPCTSL
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                         PFPRTGATRGAQEPCSVWEPPKRHRDGSAFQYEYEPPCTSL

Mouse                         LLPRTSA----QELCSVWEPPERHRDTSAFQYKYETPSASL

Rat                           LLPRTGA----QEPHSVWEPPERHRDTSAFQYKYGTPSASL

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 – 544 Adrenocortical dysplasia protein homolog


Literature citations

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H.; Ballew B.J.; Bisht K.; Eggebeen R.; Hicks B.D.; Suman S.; O'Neil A.; Giri N.; Maillard I.; Alter B.P.; Keegan C.E.; Nandakumar J.; Savage S.A.;
Genes Dev. 28:2090-2102(2014)
Cited for: INVOLVEMENT IN DKCB7; VARIANTS DKCB7 LYS-170 DEL AND THR-491; CHARACTERIZATION OF VARIANTS DKCB7 LYS-170 DEL AND THR-491; FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH TINF2;

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.