UniProtKB/Swiss-Prot O94761: Variant p.Ser523Thr

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

523 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 Threonine (T) at position 523 (S523T, p.Ser523Thr). 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 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
Other resources:

Links to websites of interest for the variant.

Variant rs754735053 [ dbSNP | Ensembl ]

Sequence information Variant position:

523 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:

PTGAGKSLCYQLPALLYSRR S PCLTLVVSPLLSLMDDQVSG 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                         PTGAGKSLCYQLPALLYSRRSPCLTLVVSPLLSLMDDQVSG

Mouse                         PTGAGKSLCYQLPALLYAQRSPCLTLVVSPLLSLMDDQVSD

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
Domain	489 – 662	Helicase ATP-binding
Mutagenesis	508 – 508	K -> A. No helicase activity (in a fragment of residues 427-1208).

Literature citations
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Van Maldergem L.; Siitonen H.A.; Jalkh N.; Chouery E.; De Roy M.; Delague V.; Muenke M.; Jabs E.W.; Cai J.; Wang L.L.; Plon S.E.; Fourneau C.; Kestilae M.; Gillerot Y.; Megarbane A.; Verloes A.;
J. Med. Genet. 43:148-152(2006)
Cited for: VARIANT BGS TRP-1021; VARIANT THR-523;

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.