UniProtKB/Swiss-Prot Q14191: Variant p.Leu1074Phe

Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN
Gene: WRN
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Variant information Variant position:

1074 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 Leucine (L) to Phenylalanine (F) at position 1074 (L1074F, p.Leu1074Phe). 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 large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Other resources:

Links to websites of interest for the variant.

Variant rs1801195 [ dbSNP | Ensembl ]

Sequence information Variant position:

1074 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1432 The length of the canonical sequence.
Location on the sequence:

ANTESQSLILQANEELCPKK L LLPSSKTVSSGTKEHCYNQV 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                         ANTES-QSLILQANEELCPKKLLLP------SSKTVSSGTKEHCYNQV

Mouse                         ASSQSPPSLLLQANEEMFPRKVLLP------SSNPVSPETT

Xenopus laevis                ANNEQCPSLLLPSNNELCLQRTRVSNFSSAQAHSSMVPHAS

Caenorhabditis elegans        EMKIDATPILLQGKKEK--------------AAPSTVPGAS

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	2 – 1432	Bifunctional 3'-5' exonuclease/ATP-dependent helicase WRN

Literature citations
Positional cloning of the Werner's syndrome gene.
Yu C.-E.; Oshima J.; Fu Y.-H.; Wijsman E.M.; Hisama F.; Alisch R.; Matthews S.; Nakura J.; Miki T.; Ouais S.; Martin G.M.; Mulligan J.; Schellenberg G.D.;
Science 272:258-262(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT PHE-1074; Epigenetic inactivation of the premature aging Werner syndrome gene in human cancer.
Agrelo R.; Cheng W.H.; Setien F.; Ropero S.; Espada J.; Fraga M.F.; Herranz M.; Paz M.F.; Sanchez-Cespedes M.; Artiga M.J.; Guerrero D.; Castells A.; von Kobbe C.; Bohr V.A.; Esteller M.;
Proc. Natl. Acad. Sci. U.S.A. 103:8822-8827(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT PHE-1074; Genomic structure of the human Werner's gene and cloning of the mouse homolog.
Paeper B.W.; Gayle M.; Brady W.; Swartz A.; Gillett L.A.; Alisch R.S.; Mulligan J.; Galas D.; Fu Y.-H.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT PHE-1074; Werner syndrome: characterization of mutations in the WRN gene in an affected family.
Meisslitzer C.; Ruppitsch W.; Weirich-Schwaiger H.; Weirich H.G.; Jabkowsky J.; Klein G.; Schweiger M.; Hirsch-Kauffmann M.;
Eur. J. Hum. Genet. 5:364-370(1997)
Cited for: VARIANTS ILE-387 AND PHE-1074; The Werner syndrome gene and global sequence variation.
Passarino G.; Shen P.; Van Kirk J.B.; Lin A.A.; De Benedictis G.; Cavalli-Sforza L.L.; Oefner P.J.; Underhill P.A.;
Genomics 71:118-122(2001)
Cited for: VARIANTS ARG-32; ILE-114; PRO-172; LYS-240; TRP-383; ILE-387; LEU-724; PHE-1074; GLU-1269 AND ARG-1367;

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.