UniProtKB/Swiss-Prot O94761: Variant p.Ser92Pro

ATP-dependent DNA helicase Q4
Gene: RECQL4
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Variant information Variant position:

92 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 Serine (S) to Proline (P) at position 92 (S92P, p.Ser92Pro). 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 (P) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2721190 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1208 The length of the canonical sequence.
Location on the sequence:

APEPRCWGPHLNRAATKSPQ S TPGRSRQGSVPDYGQRLKAN 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                         APEPRCWGPHLNRAATKSPQSTPGRSRQGSVPDYGQRLKAN

Mouse                         AQEPSCWGPHLSRAATQNTQSMPKQSLLSSVQDYGKRLKAN

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 – 1208	ATP-dependent DNA helicase Q4
Region	17 – 180	Disordered
Compositional bias	85 – 100	Polar residues

Literature citations
Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes.
Kitao S.; Ohsugi I.; Ichikawa K.; Goto M.; Furuichi Y.; Shimamoto A.;
Genomics 54:443-452(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANT PRO-92; Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products.
Kitao S.; Lindor N.M.; Shiratori M.; Furuichi Y.; Shimamoto A.;
Genomics 61:268-276(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; SUBCELLULAR LOCATION; VARIANT PRO-92; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-54; GLY-71; PRO-92; SER-189; ASP-267; THR-273; LYS-301; CYS-522; HIS-522; LEU-591; SER-793; MET-799; THR-964; LYS-976; TRP-1004; GLN-1005; GLN-1021; THR-1045; SER-1105; ASP-1105; HIS-1106; ARG-1113 AND PHE-1148;

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.