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UniProtKB/Swiss-Prot Q9NZ71: Variant p.Pro484Leu

Regulator of telomere elongation helicase 1
Gene: RTEL1
Chromosomal location: 20q13.3
Variant information

Variant position:  484
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 Leucine (L) at position 484 (P484L, p.Pro484Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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

Involvement in disease:  Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3 (PFBMFT3) [MIM:616373]: A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. {ECO:0000269|PubMed:25848748}. 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 PFBMFT3.
Any additional useful information about the variant.

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



Sequence information

Variant position:  484
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1219
The length of the canonical sequence.

Location on the sequence:   MHELVRQGVRSLILTSGTLA  P VSSFALEMQIPFPVCLENPH
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                         MHELVRQGVRSLILTSGTLAPVSSFALEMQIPFPVCLENPH

Mouse                         MRELVCQGVRTLILTSGTLAPLSSFALEMQIPFPVCLENPH

Rat                           MRELVQQGVRTLILTSGTLAPLSSFALEMQIPFPVCLENPH

Bovine                        MRELVRQGVRTLILTSGTLAPMASFSLEMQIPFPVCLENPH

Zebrafish                     MQELLRQEVRCIILTSGTLSPLSSFTCEMQIPFPVSLENPH

Caenorhabditis elegans        MRMLKMRGVRNVLLASGTLSPIQAFTYNMGLNFGAILENEH

Drosophila                    MEQLLNTQVRSVILTSGTLAPLKPLIAELAIPVAQHLENPH

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 – 1219 Regulator of telomere elongation helicase 1
Alternative sequence 1 – 755 Missing. In isoform 5.


Literature citations

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Stuart B.D.; Choi J.; Zaidi S.; Xing C.; Holohan B.; Chen R.; Choi M.; Dharwadkar P.; Torres F.; Girod C.E.; Weissler J.; Fitzgerald J.; Kershaw C.; Klesney-Tait J.; Mageto Y.; Shay J.W.; Ji W.; Bilguvar K.; Mane S.; Lifton R.P.; Garcia C.K.;
Nat. Genet. 47:512-517(2015)
Cited for: INVOLVEMENT IN PFBMFT3; VARIANTS PFBMFT3 LEU-484; LEU-647 AND PRO-1124;

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.